# Varia Provenance Report

Generated from the per-SNP evidence records in `scripts/catalog/evidence-records/`.
Every genotype Varia can display appears here. Number-mode rows carry the full
citation chain; framing-only rows carry the reason they show prose instead of a figure.
An outside auditor can follow any displayed number back to its peer-reviewed source
without trusting Kairos.

## Summary

| Metric | Count |
| --- | ---: |
| SNPs covered | 64 |
| Genotypes with a displayed number | 19 |
| Genotypes shown as framing only | 167 |
| Distinct PMIDs cited | 10 |
| Records where verified is false | 15 |
| Absent chain field markers | 6 |

## Variants

### rs10455872 (LPA)

- verified: true
- effect_allele: G
- direction: risk
- direction_source: pmid:20032323

#### Genotype A,A (framing_only)

- reason: reference homozygote (non-carrier)

#### Genotype A,G (number)

| Field | Value |
| --- | --- |
| rsid | rs10455872 |
| gene | LPA |
| genotype | A,G |
| value | 1.7 |
| metric | OR |
| trait | coronary artery disease |
| zygosity_basis | per_allele |
| pmid | 20032323 |
| verbatim_quote | We identified a common variant (rs10455872) at the LPA locus with an odds ratio for coronary disease of 1.70 (95% confidence interval [CI], 1.49 to 1.95) and another independent variant (rs3798220) with an odds ratio of 1.92 (95% CI, 1.48 to 2.49). |
| effect_allele | G |
| direction | risk |
| direction_source | pmid:20032323 |

#### Genotype G,G (number)

| Field | Value |
| --- | --- |
| rsid | rs10455872 |
| gene | LPA |
| genotype | G,G |
| value | 1.7 |
| metric | OR |
| trait | coronary artery disease |
| zygosity_basis | per_allele |
| pmid | 20032323 |
| verbatim_quote | We identified a common variant (rs10455872) at the LPA locus with an odds ratio for coronary disease of 1.70 (95% confidence interval [CI], 1.49 to 1.95) and another independent variant (rs3798220) with an odds ratio of 1.92 (95% CI, 1.48 to 2.49). |
| effect_allele | G |
| direction | risk |
| direction_source | pmid:20032323 |

### rs1057910 (CYP2C9)

- verified: true
- effect_allele: C
- direction: none
- direction_source: cpic:CYP2C9*3

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

### rs10757278 (CDKN2B-AS1)

- verified: true
- effect_allele: G
- direction: risk
- direction_source: gwas_catalog:rs10757278-G

#### Genotype A,A (framing_only)

- reason: reference homozygote (non-carrier)

#### Genotype A,G (framing_only)

- reason: carrier without displayable cited figure for this zygosity

#### Genotype G,G (framing_only)

- reason: homozygous OR 1.64 in PMID 17478679 lacks a reported confidence interval; prose-only display

### rs10795668 (10p14)

- verified: false
- effect_allele: A
- direction: none
- direction_source: gwas_catalog:rs10795668-G

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs10936599 (TERC)

- verified: true
- effect_allele: C
- direction: none
- direction_source: gwas_catalog:rs10936599-T

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs11136000 (CLU / Clusterin)

- verified: true
- effect_allele: T
- direction: protective
- direction_source: gwas_catalog:rs11136000-?

#### Genotype C,C (framing_only)

- reason: reference homozygote (non-carrier of protective T allele)

#### Genotype C,T (number)

| Field | Value |
| --- | --- |
| rsid | rs11136000 |
| gene | CLU / Clusterin |
| genotype | C,T |
| value | 0.86 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | per_allele |
| pmid | 19734903 |
| verbatim_quote | Two loci gave replicated evidence of association: one within CLU (also called APOJ), encoding clusterin or apolipoprotein J, on chromosome 8 (rs11136000, OR = 0.86, 95% CI 0.81-0.90, P = 7.5 x 10(-9) for combined data) and the other within CR1, encoding the complement component (3b/4b) receptor 1, on chromosome 1 (rs6656401, OR = 1.21, 95% CI 1.14-1.29, P = 3.7 x 10(-9) for combined data). |
| effect_allele | T |
| direction | protective |
| direction_source | gwas_catalog:rs11136000-? |

#### Genotype T,T (number)

| Field | Value |
| --- | --- |
| rsid | rs11136000 |
| gene | CLU / Clusterin |
| genotype | T,T |
| value | 0.86 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | per_allele |
| pmid | 19734903 |
| verbatim_quote | Two loci gave replicated evidence of association: one within CLU (also called APOJ), encoding clusterin or apolipoprotein J, on chromosome 8 (rs11136000, OR = 0.86, 95% CI 0.81-0.90, P = 7.5 x 10(-9) for combined data) and the other within CR1, encoding the complement component (3b/4b) receptor 1, on chromosome 1 (rs6656401, OR = 1.21, 95% CI 1.14-1.29, P = 3.7 x 10(-9) for combined data). |
| effect_allele | T |
| direction | protective |
| direction_source | gwas_catalog:rs11136000-? |

### rs1143679 (ITGAM)

- verified: false
- effect_allele: A
- direction: none
- direction_source: pmid:19286673

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs11591147 (PCSK9)

- verified: true
- effect_allele: T
- direction: none
- direction_source: editorial_determination:rs11591147-no-effect-estimate

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs12248560 (CYP2C19)

- verified: true
- effect_allele: C
- direction: none
- direction_source: cpic:CYP2C19*17

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs1333049 (CDKN2B-AS1)

- verified: true
- effect_allele: C
- direction: risk
- direction_source: gwas_catalog:rs1333049-C

#### Genotype C,C (framing_only)

- reason: cited figure withdrawn: 1.64 belongs to rs10757278, not this variant (see withheld_figures)

#### Genotype G,C (framing_only)

- reason: carrier without displayable cited figure for this zygosity

#### Genotype G,G (framing_only)

- reason: reference homozygote (non-carrier)

### rs13387042 (2q35)

- verified: false
- effect_allele: A
- direction: none
- direction_source: pmid:19567422

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs1360780 (FKBP5)

- verified: true
- effect_allele: C
- direction: none
- direction_source: editorial_determination:rs1360780-no-effect-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs174537 (FADS1)

- verified: true
- effect_allele: G
- direction: none
- direction_source: editorial_determination:rs174537-no-displayable-estimate

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs1799945 (HFE)

- verified: true
- effect_allele: G
- direction: none
- direction_source: clinvar:HFE-H63D

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs1799963 (F2 / Prothrombin G20210A)

- verified: true
- effect_allele: A
- direction: risk
- direction_source: clinvar:Prothrombin-G20210A

#### Genotype A,A (framing_only)

- reason: PMID 8916933 reports per-A-allele OR 2.8 only; no homozygous point estimate with CI

#### Genotype G,A (number)

| Field | Value |
| --- | --- |
| rsid | rs1799963 |
| gene | F2 / Prothrombin G20210A |
| genotype | G,A |
| value | 2.8 |
| metric | OR |
| trait | venous thromboembolism |
| zygosity_basis | per_allele |
| pmid | 8916933 |
| verbatim_quote | In a population-based case-control study, the 20210 A allele was identified as a common allele (allele frequency, 1.2%; 95% confidence interval, 0.5% to 1.8%), which increased the risk of venous thrombosis almost threefold {odds ratio, 2.8; 95% confidence interval, 1.4 to 5.6}. |
| effect_allele | A |
| direction | risk |
| direction_source | clinvar:Prothrombin-G20210A |

#### Genotype G,G (framing_only)

- reason: reference homozygote (non-carrier)

### rs1799983 (NOS3 / eNOS)

- verified: true
- effect_allele: T
- direction: risk
- direction_source: gwas_catalog:rs1799983-T

#### Genotype G,G (framing_only)

- reason: reference homozygote (non-carrier)

#### Genotype G,T (framing_only)

- reason: carrier without displayable cited figure for this zygosity

#### Genotype T,T (framing_only)

- reason: dual_source adjudication rule 3: PMID 10510054 hom OR 4.2 (single angiographic cohort) not replicated at GWAS per-allele OR ~1.05

### rs1800497 (ANKK1/DRD2)

- verified: true
- effect_allele: G
- direction: none
- direction_source: pmid:1969501

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs1800562 (HFE)

- verified: true
- effect_allele: A
- direction: risk
- direction_source: clinvar:HFE-C282Y

#### Genotype A,A (framing_only)

- reason: carrier without displayable cited figure for this zygosity

#### Genotype G,A (framing_only)

- reason: carrier without displayable cited figure for this zygosity

#### Genotype G,G (framing_only)

- reason: reference homozygote (non-carrier)

### rs1800795 (IL6)

- verified: true
- effect_allele: C
- direction: none
- direction_source: editorial_determination:rs1800795-no-effect-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs1801131 (MTHFR)

- verified: true
- effect_allele: G
- direction: none
- direction_source: editorial_determination:rs1801131-no-displayable-estimate

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs1801133 (MTHFR)

- verified: true
- effect_allele: A
- direction: risk
- direction_source: pmid:12387655

#### Genotype A,A (number)

| Field | Value |
| --- | --- |
| rsid | rs1801133 |
| gene | MTHFR |
| genotype | A,A |
| value | 1.16 |
| metric | OR |
| trait | coronary heart disease |
| zygosity_basis | hom_comparison |
| pmid | 12387655 |
| verbatim_quote | Data synthesis Individuals with the MTHFR 677 TT genotype had a 16% (OR, 1.16; 95% confidence interval [CI], 1.05-1.28) higher odds of CHD compared with individuals with the CC genotype. |
| effect_allele | A |
| direction | risk |
| direction_source | pmid:12387655 |

#### Genotype G,A (framing_only)

- reason: carrier without displayable cited figure for this zygosity

#### Genotype G,G (framing_only)

- reason: reference homozygote (non-carrier)

### rs1859962 (17q24.3)

- verified: false
- effect_allele: G
- direction: none
- direction_source: gwas_catalog:rs1859962-G

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs2070744 (NOS3 / eNOS)

- verified: true
- effect_allele: T
- direction: none
- direction_source: editorial_determination:rs2070744-no-effect-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs2075650 (TOMM40)

- verified: true
- effect_allele: A
- direction: none
- direction_source: editorial_determination:rs2075650-no-displayable-estimate

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs2253310 (FOXO3)

- verified: true
- effect_allele: G
- direction: none
- direction_source: pmid:18765803

#### Genotype C,C (framing_only)

- reason: reference; no G longevity allele

#### Genotype C,G (framing_only)

- reason: one G longevity allele; qualitative framing

#### Genotype G,G (framing_only)

- reason: homozygous G longevity tag; qualitative framing

### rs2476601 (PTPN22)

- verified: false
- effect_allele: A
- direction: none
- direction_source: pmid:15208781

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs2494732 (AKT1)

- verified: true
- effect_allele: C
- direction: none
- direction_source: editorial_determination:rs2494732-no-effect-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs2736100 (TERT)

- verified: true
- effect_allele: C
- direction: none
- direction_source: gwas_catalog:rs2736100-C

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

### rs2802292 (FOXO3)

- verified: true
- effect_allele: G
- direction: protective
- direction_source: pmid:18765803

#### Genotype G,G (number)

| Field | Value |
| --- | --- |
| rsid | rs2802292 |
| gene | FOXO3 |
| genotype | G,G |
| value | 2.75 |
| metric | OR |
| trait | human longevity |
| zygosity_basis | hom_comparison |
| pmid | 18765803 |
| verbatim_quote | The OR for homozygous minor vs. homozygous major alleles between the cases and controls was 2.75 (P = 0.00009; adjusted P = 0.00135). |
| effect_allele | G |
| direction | protective |
| direction_source | pmid:18765803 |

#### Genotype T,G (framing_only)

- reason: carrier without displayable cited figure for this zygosity

#### Genotype T,T (framing_only)

- reason: reference homozygote (non-carrier)

### rs2981582 (FGFR2)

- verified: false
- effect_allele: A
- direction: none
- direction_source: gwas_catalog:rs2981582-A

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs3764650 (ABCA7)

- verified: true
- effect_allele: G
- direction: none
- direction_source: gwas_catalog:rs3764650-?

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs3798220 (LPA)

- verified: true
- effect_allele: C
- direction: risk
- direction_source: pmid:20032323

#### Genotype C,C (number)

| Field | Value |
| --- | --- |
| rsid | rs3798220 |
| gene | LPA |
| genotype | C,C |
| value | 1.92 |
| metric | OR |
| trait | coronary artery disease |
| zygosity_basis | per_allele |
| pmid | 20032323 |
| verbatim_quote | We identified a common variant (rs10455872) at the LPA locus with an odds ratio for coronary disease of 1.70 (95% confidence interval [CI], 1.49 to 1.95) and another independent variant (rs3798220) with an odds ratio of 1.92 (95% CI, 1.48 to 2.49). |
| effect_allele | C |
| direction | risk |
| direction_source | pmid:20032323 |

#### Genotype C,T (number)

| Field | Value |
| --- | --- |
| rsid | rs3798220 |
| gene | LPA |
| genotype | C,T |
| value | (absent) |
| metric | (absent) |
| trait | (absent) |
| zygosity_basis | (absent) |
| pmid | (absent) |
| verbatim_quote | (absent) |
| effect_allele | C |
| direction | risk |
| direction_source | pmid:20032323 |

#### Genotype T,T (framing_only)

- reason: reference homozygote (non-carrier)

### rs3803662 (TOX3)

- verified: false
- effect_allele: A
- direction: none
- direction_source: gwas_catalog:rs3803662-T

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs3814113 (BNC2)

- verified: false
- effect_allele: C
- direction: none
- direction_source: pmid:19648919

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs3851179 (PICALM)

- verified: true
- effect_allele: T
- direction: protective
- direction_source: gwas_catalog:rs3851179-T

#### Genotype C,C (framing_only)

- reason: reference homozygote (non-carrier of protective T allele)

#### Genotype C,T (number)

| Field | Value |
| --- | --- |
| rsid | rs3851179 |
| gene | PICALM |
| genotype | C,T |
| value | 0.86 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | per_allele |
| pmid | 19734902 |
| verbatim_quote | These associations were replicated in stage 2 (2,023 cases and 2,340 controls), producing compelling evidence for association with Alzheimer's disease in the combined dataset (rs11136000, P = 8.5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86). |
| effect_allele | T |
| direction | protective |
| direction_source | gwas_catalog:rs3851179-T |

#### Genotype T,T (number)

| Field | Value |
| --- | --- |
| rsid | rs3851179 |
| gene | PICALM |
| genotype | T,T |
| value | 0.86 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | per_allele |
| pmid | 19734902 |
| verbatim_quote | These associations were replicated in stage 2 (2,023 cases and 2,340 controls), producing compelling evidence for association with Alzheimer's disease in the combined dataset (rs11136000, P = 8.5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86). |
| effect_allele | T |
| direction | protective |
| direction_source | gwas_catalog:rs3851179-T |

### rs4149056 (SLCO1B1)

- verified: true
- effect_allele: C
- direction: risk
- direction_source: cpic:SLCO1B1-statin-myopathy

#### Genotype C,C (number)

| Field | Value |
| --- | --- |
| rsid | rs4149056 |
| gene | SLCO1B1 |
| genotype | C,C |
| value | 4.5 |
| metric | OR |
| trait | statin-induced myopathy |
| zygosity_basis | per_allele |
| pmid | 18650507 |
| verbatim_quote | The odds ratio for myopathy was 4.5 (95% confidence interval [CI], 2.6 to 7.7) per copy of the C allele, and 16.9 (95% CI, 4.7 to 61.1) in CC as compared with TT homozygotes. |
| effect_allele | C |
| direction | risk |
| direction_source | cpic:SLCO1B1-statin-myopathy |

#### Genotype T,C (number)

| Field | Value |
| --- | --- |
| rsid | rs4149056 |
| gene | SLCO1B1 |
| genotype | T,C |
| value | 4.5 |
| metric | OR |
| trait | statin-induced myopathy |
| zygosity_basis | per_allele |
| pmid | 18650507 |
| verbatim_quote | The odds ratio for myopathy was 4.5 (95% confidence interval [CI], 2.6 to 7.7) per copy of the C allele, and 16.9 (95% CI, 4.7 to 61.1) in CC as compared with TT homozygotes. |
| effect_allele | C |
| direction | risk |
| direction_source | cpic:SLCO1B1-statin-myopathy |

#### Genotype T,T (framing_only)

- reason: reference homozygote (non-carrier)

### rs4244285 (CYP2C19)

- verified: true
- effect_allele: A
- direction: none
- direction_source: cpic:CYP2C19*2

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs429358 (APOE)

- verified: true
- effect_allele: (absent)
- direction: none
- direction_source: pmid:9343467

### rs4420638 (APOC1)

- verified: true
- effect_allele: G
- direction: none
- direction_source: editorial_determination:rs4420638-no-displayable-estimate

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs4430796 (HNF1B)

- verified: false
- effect_allele: G
- direction: none
- direction_source: pmid:18701471

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs4779584 (GREM1)

- verified: false
- effect_allele: T
- direction: none
- direction_source: pmid:21655089

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs4946936 (FOXO3)

- verified: true
- effect_allele: T
- direction: none
- direction_source: editorial_determination:rs4946936-no-displayable-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs4988235 (LCT / MCM6)

- verified: true
- effect_allele: A
- direction: none
- direction_source: pmid:11788828

#### Genotype A,A (framing_only)

- reason: homozygous persistence; qualitative trait framing

#### Genotype G,A (framing_only)

- reason: heterozygous persistence; qualitative trait framing

#### Genotype G,G (framing_only)

- reason: non-persistence reference

### rs505922 (ABO)

- verified: false
- effect_allele: C
- direction: none
- direction_source: pmid:19648918

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs564481 (KL)

- verified: true
- effect_allele: C
- direction: none
- direction_source: editorial_determination:rs564481-no-displayable-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs5751876 (ADORA2A)

- verified: true
- effect_allele: T
- direction: none
- direction_source: editorial_determination:rs5751876-no-effect-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs6025 (F5 / Factor V Leiden)

- verified: true
- effect_allele: T
- direction: risk
- direction_source: clinvar:RCV000000123

#### Genotype C,C (framing_only)

- reason: reference homozygote (non-carrier)

#### Genotype C,T (number)

| Field | Value |
| --- | --- |
| rsid | rs6025 |
| gene | F5 / Factor V Leiden |
| genotype | C,T |
| value | 3.5 |
| metric | RR |
| trait | venous thrombosis |
| zygosity_basis | het |
| pmid | 7877648 |
| verbatim_quote | This increased risk was seen with primary venous thrombosis (relative risk, 3.5; 95 percent confidence interval, 1.5 to 8.4; P = 0.004) but not with secondary venous thrombosis (relative risk, 1.7; 95 percent confidence interval, 0.6 to 5.3; P = 0.3), and it was most apparent among older men. |
| effect_allele | T |
| direction | risk |
| direction_source | clinvar:RCV000000123 |

#### Genotype T,T (framing_only)

- reason: carrier without displayable cited figure for this zygosity

### rs6265 (BDNF)

- verified: true
- effect_allele: T
- direction: none
- direction_source: editorial_determination:rs6265-no-effect-estimate

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs641120 (SORL1)

- verified: true
- effect_allele: (absent)
- direction: none
- direction_source: editorial_determination:rs641120-no-single-direction

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs6511720 (LDLR)

- verified: true
- effect_allele: T
- direction: none
- direction_source: gwas_catalog:rs6511720-T

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs6656401 (CR1)

- verified: true
- effect_allele: A
- direction: risk
- direction_source: gwas_catalog:rs6656401-A

#### Genotype A,A (number)

| Field | Value |
| --- | --- |
| rsid | rs6656401 |
| gene | CR1 |
| genotype | A,A |
| value | 1.21 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | het |
| pmid | 19734903 |
| verbatim_quote | Two loci gave replicated evidence of association: one within CLU (also called APOJ), encoding clusterin or apolipoprotein J, on chromosome 8 (rs11136000, OR = 0.86, 95% CI 0.81-0.90, P = 7.5 x 10(-9) for combined data) and the other within CR1, encoding the complement component (3b/4b) receptor 1, on chromosome 1 (rs6656401, OR = 1.21, 95% CI 1.14-1.29, P = 3.7 x 10(-9) for combined data). |
| effect_allele | A |
| direction | risk |
| direction_source | gwas_catalog:rs6656401-A |

#### Genotype A,G (number)

| Field | Value |
| --- | --- |
| rsid | rs6656401 |
| gene | CR1 |
| genotype | A,G |
| value | 1.21 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | het |
| pmid | 19734903 |
| verbatim_quote | Two loci gave replicated evidence of association: one within CLU (also called APOJ), encoding clusterin or apolipoprotein J, on chromosome 8 (rs11136000, OR = 0.86, 95% CI 0.81-0.90, P = 7.5 x 10(-9) for combined data) and the other within CR1, encoding the complement component (3b/4b) receptor 1, on chromosome 1 (rs6656401, OR = 1.21, 95% CI 1.14-1.29, P = 3.7 x 10(-9) for combined data). |
| effect_allele | A |
| direction | risk |
| direction_source | gwas_catalog:rs6656401-A |

#### Genotype G,G (framing_only)

- reason: reference homozygote (non-carrier)

### rs693 (APOB)

- verified: true
- effect_allele: A
- direction: none
- direction_source: gwas_catalog:rs693-A

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs6983267 (8q24)

- verified: false
- effect_allele: G
- direction: none
- direction_source: pmid:17618284

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs7412 (APOE)

- verified: true
- effect_allele: (absent)
- direction: none
- direction_source: pmid:9343467

### rs7561528 (BIN1)

- verified: true
- effect_allele: (absent)
- direction: none
- direction_source: gwas_catalog:rs7561528-A

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs7574865 (STAT4)

- verified: false
- effect_allele: T
- direction: none
- direction_source: pmid:17804842

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,G (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs75932628 (TREM2)

- verified: true
- effect_allele: T
- direction: risk
- direction_source: pmid:23150908

#### Genotype C,C (framing_only)

- reason: reference homozygote (non-carrier)

#### Genotype C,T (number)

| Field | Value |
| --- | --- |
| rsid | rs75932628 |
| gene | TREM2 |
| genotype | C,T |
| value | 2.92 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | per_allele |
| pmid | 23150908 |
| verbatim_quote | Results A rare missense mutation (rs75932628-T) in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2), which was predicted to result in an R47H substitution, was found to confer a significant risk of Alzheimer's disease in Iceland (odds ratio, 2.92; 95% confidence interval [CI], 2.09 to 4.09; P=3.42×10(-10)). |
| effect_allele | T |
| direction | risk |
| direction_source | pmid:23150908 |

#### Genotype T,T (number)

| Field | Value |
| --- | --- |
| rsid | rs75932628 |
| gene | TREM2 |
| genotype | T,T |
| value | 2.92 |
| metric | OR |
| trait | Alzheimer's disease |
| zygosity_basis | per_allele |
| pmid | 23150908 |
| verbatim_quote | Results A rare missense mutation (rs75932628-T) in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2), which was predicted to result in an R47H substitution, was found to confer a significant risk of Alzheimer's disease in Iceland (odds ratio, 2.92; 95% confidence interval [CI], 2.09 to 4.09; P=3.42×10(-10)). |
| effect_allele | T |
| direction | risk |
| direction_source | pmid:23150908 |

### rs762551 (CYP1A2)

- verified: true
- effect_allele: C
- direction: none
- direction_source: editorial_determination:rs762551-no-effect-estimate

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype A,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

### rs7903146 (TCF7L2)

- verified: true
- effect_allele: T
- direction: risk
- direction_source: gwas_catalog:rs7903146-T

#### Genotype C,C (framing_only)

- reason: reference homozygote (non-carrier)

#### Genotype C,T (number)

| Field | Value |
| --- | --- |
| rsid | rs7903146 |
| gene | TCF7L2 |
| genotype | C,T |
| value | 1.45 |
| metric | RR |
| trait | type 2 diabetes |
| zygosity_basis | het |
| pmid | 16415884 |
| verbatim_quote | Compared with non-carriers, heterozygous and homozygous carriers of the at-risk alleles (38% and 7% of the population, respectively) have relative risks of 1.45 and 2.41. |
| effect_allele | T |
| direction | risk |
| direction_source | gwas_catalog:rs7903146-T |

#### Genotype T,T (framing_only)

- reason: carrier without displayable cited figure for this zygosity

### rs910873 (ASIP)

- verified: false
- effect_allele: G
- direction: none
- direction_source: pmid:18488026

#### Genotype A,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,A (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype G,G (framing_only)

- reason: authoritatively pinned framing-only

### rs9527025 (KL)

- verified: true
- effect_allele: C
- direction: disadvantage
- direction_source: pmid:11792841

#### Genotype C,C (framing_only)

- reason: homozygous KL-VS; overdominance; cited figure not displayed

#### Genotype C,G (framing_only)

- reason: heterozygote advantage genotype; qualitative display

#### Genotype G,G (framing_only)

- reason: reference homozygote (non-carrier of KL-VS C allele)

### rs9536314 (KL)

- verified: true
- effect_allele: G
- direction: disadvantage
- direction_source: pmid:11792841

#### Genotype G,G (framing_only)

- reason: homozygous KL-VS; overdominance; cited figure not displayed

#### Genotype T,G (framing_only)

- reason: heterozygote advantage genotype; qualitative display

#### Genotype T,T (framing_only)

- reason: reference homozygote (non-carrier of KL-VS G allele)

### rs9543325 (13q22.1)

- verified: false
- effect_allele: C
- direction: none
- direction_source: pmid:20101243

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

### rs9923231 (VKORC1)

- verified: true
- effect_allele: T
- direction: none
- direction_source: cpic:VKORC1-warfarin

#### Genotype C,C (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype C,T (framing_only)

- reason: authoritatively pinned framing-only

#### Genotype T,T (framing_only)

- reason: authoritatively pinned framing-only

---

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