Varia Provenance Report
Generated from the per-SNP evidence records. Every genotype Varia can display appears here. Rows that display a number 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.
Machine-readable: JSON and Markdown. Regenerated from the evidence records on every build, with CI failing if this page drifts from them.
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 | source: pmid:20032323
Genotype A,A framing only
reference homozygote (non-carrier)
Genotype A,G displays a number
| value | 1.7 |
|---|
| metric | OR |
|---|
| trait | coronary artery disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 displays a number
| value | 1.7 |
|---|
| metric | OR |
|---|
| trait | coronary artery disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 | source: cpic:CYP2C9*3
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,C framing only
authoritatively pinned framing-only
Genotype C,C framing only
authoritatively pinned framing-only
rs10757278 CDKN2B-AS1
verified: true | effect allele: G | direction: risk | source: gwas_catalog:rs10757278-G
Genotype A,A framing only
reference homozygote (non-carrier)
Genotype A,G framing only
carrier without displayable cited figure for this zygosity
Genotype G,G framing only
homozygous OR 1.64 in PMID 17478679 lacks a reported confidence interval; prose-only display
rs10795668 10p14
verified: false | effect allele: A | direction: none | source: gwas_catalog:rs10795668-G
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs10936599 TERC
verified: true | effect allele: C | direction: none | source: gwas_catalog:rs10936599-T
Genotype C,C framing only
authoritatively pinned framing-only
Genotype T,C framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs11136000 CLU / Clusterin
verified: true | effect allele: T | direction: protective | source: gwas_catalog:rs11136000-?
Genotype C,C framing only
reference homozygote (non-carrier of protective T allele)
Genotype C,T displays a number
| value | 0.86 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 displays a number
| value | 0.86 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 | source: pmid:19286673
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs11591147 PCSK9
verified: true | effect allele: T | direction: none | source: editorial_determination:rs11591147-no-effect-estimate
Genotype G,G framing only
authoritatively pinned framing-only
Genotype G,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs12248560 CYP2C19
verified: true | effect allele: C | direction: none | source: cpic:CYP2C19*17
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs1333049 CDKN2B-AS1
verified: true | effect allele: C | direction: risk | source: gwas_catalog:rs1333049-C
Genotype C,C framing only
cited figure withdrawn: 1.64 belongs to rs10757278, not this variant (see withheld_figures)
Genotype G,C framing only
carrier without displayable cited figure for this zygosity
Genotype G,G framing only
reference homozygote (non-carrier)
rs13387042 2q35
verified: false | effect allele: A | direction: none | source: pmid:19567422
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs1360780 FKBP5
verified: true | effect allele: C | direction: none | source: editorial_determination:rs1360780-no-effect-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs174537 FADS1
verified: true | effect allele: G | direction: none | source: editorial_determination:rs174537-no-displayable-estimate
Genotype G,G framing only
authoritatively pinned framing-only
Genotype G,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs1799945 HFE
verified: true | effect allele: G | direction: none | source: clinvar:HFE-H63D
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs1799963 F2 / Prothrombin G20210A
verified: true | effect allele: A | direction: risk | source: clinvar:Prothrombin-G20210A
Genotype A,A framing only
PMID 8916933 reports per-A-allele OR 2.8 only; no homozygous point estimate with CI
Genotype G,A displays a number
| value | 2.8 |
|---|
| metric | OR |
|---|
| trait | venous thromboembolism |
|---|
| zygosity basis | per_allele |
|---|
| source | 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
reference homozygote (non-carrier)
rs1799983 NOS3 / eNOS
verified: true | effect allele: T | direction: risk | source: gwas_catalog:rs1799983-T
Genotype G,G framing only
reference homozygote (non-carrier)
Genotype G,T framing only
carrier without displayable cited figure for this zygosity
Genotype T,T framing only
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 | source: pmid:1969501
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs1800562 HFE
verified: true | effect allele: A | direction: risk | source: clinvar:HFE-C282Y
Genotype A,A framing only
carrier without displayable cited figure for this zygosity
Genotype G,A framing only
carrier without displayable cited figure for this zygosity
Genotype G,G framing only
reference homozygote (non-carrier)
rs1800795 IL6
verified: true | effect allele: C | direction: none | source: editorial_determination:rs1800795-no-effect-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype G,C framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs1801131 MTHFR
verified: true | effect allele: G | direction: none | source: editorial_determination:rs1801131-no-displayable-estimate
Genotype G,G framing only
authoritatively pinned framing-only
Genotype T,G framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs1801133 MTHFR
verified: true | effect allele: A | direction: risk | source: pmid:12387655
Genotype A,A displays a number
| value | 1.16 |
|---|
| metric | OR |
|---|
| trait | coronary heart disease |
|---|
| zygosity basis | hom_comparison |
|---|
| source | 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
carrier without displayable cited figure for this zygosity
Genotype G,G framing only
reference homozygote (non-carrier)
rs1859962 17q24.3
verified: false | effect allele: G | direction: none | source: gwas_catalog:rs1859962-G
Genotype G,G framing only
authoritatively pinned framing-only
Genotype G,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs2070744 NOS3 / eNOS
verified: true | effect allele: T | direction: none | source: editorial_determination:rs2070744-no-effect-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype T,C framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs2075650 TOMM40
verified: true | effect allele: A | direction: none | source: editorial_determination:rs2075650-no-displayable-estimate
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs2253310 FOXO3
verified: true | effect allele: G | direction: none | source: pmid:18765803
Genotype C,C framing only
reference; no G longevity allele
Genotype C,G framing only
one G longevity allele; qualitative framing
Genotype G,G framing only
homozygous G longevity tag; qualitative framing
rs2476601 PTPN22
verified: false | effect allele: A | direction: none | source: pmid:15208781
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs2494732 AKT1
verified: true | effect allele: C | direction: none | source: editorial_determination:rs2494732-no-effect-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs2736100 TERT
verified: true | effect allele: C | direction: none | source: gwas_catalog:rs2736100-C
Genotype A,A framing only
authoritatively pinned framing-only
Genotype C,A framing only
authoritatively pinned framing-only
Genotype C,C framing only
authoritatively pinned framing-only
rs2802292 FOXO3
verified: true | effect allele: G | direction: protective | source: pmid:18765803
Genotype G,G displays a number
| value | 2.75 |
|---|
| metric | OR |
|---|
| trait | human longevity |
|---|
| zygosity basis | hom_comparison |
|---|
| source | 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
carrier without displayable cited figure for this zygosity
Genotype T,T framing only
reference homozygote (non-carrier)
rs2981582 FGFR2
verified: false | effect allele: A | direction: none | source: gwas_catalog:rs2981582-A
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs3764650 ABCA7
verified: true | effect allele: G | direction: none | source: gwas_catalog:rs3764650-?
Genotype G,G framing only
authoritatively pinned framing-only
Genotype G,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs3798220 LPA
verified: true | effect allele: C | direction: risk | source: pmid:20032323
Genotype C,C displays a number
| value | 1.92 |
|---|
| metric | OR |
|---|
| trait | coronary artery disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 displays a number
| value | (absent) |
|---|
| metric | (absent) |
|---|
| trait | (absent) |
|---|
| zygosity basis | (absent) |
|---|
| source | (absent) |
|---|
| verbatim quote | (absent) |
|---|
| effect allele | C |
|---|
| direction | risk |
|---|
| direction source | pmid:20032323 |
|---|
Genotype T,T framing only
reference homozygote (non-carrier)
rs3803662 TOX3
verified: false | effect allele: A | direction: none | source: gwas_catalog:rs3803662-T
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs3814113 BNC2
verified: false | effect allele: C | direction: none | source: pmid:19648919
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs3851179 PICALM
verified: true | effect allele: T | direction: protective | source: gwas_catalog:rs3851179-T
Genotype C,C framing only
reference homozygote (non-carrier of protective T allele)
Genotype C,T displays a number
| value | 0.86 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 displays a number
| value | 0.86 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 | source: cpic:SLCO1B1-statin-myopathy
Genotype C,C displays a number
| value | 4.5 |
|---|
| metric | OR |
|---|
| trait | statin-induced myopathy |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 displays a number
| value | 4.5 |
|---|
| metric | OR |
|---|
| trait | statin-induced myopathy |
|---|
| zygosity basis | per_allele |
|---|
| source | 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
reference homozygote (non-carrier)
rs4244285 CYP2C19
verified: true | effect allele: A | direction: none | source: cpic:CYP2C19*2
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs429358 APOE
verified: true | effect allele: (absent) | direction: none | source: pmid:9343467
rs4420638 APOC1
verified: true | effect allele: G | direction: none | source: editorial_determination:rs4420638-no-displayable-estimate
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs4430796 HNF1B
verified: false | effect allele: G | direction: none | source: pmid:18701471
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs4779584 GREM1
verified: false | effect allele: T | direction: none | source: pmid:21655089
Genotype C,C framing only
authoritatively pinned framing-only
Genotype T,C framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs4946936 FOXO3
verified: true | effect allele: T | direction: none | source: editorial_determination:rs4946936-no-displayable-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs4988235 LCT / MCM6
verified: true | effect allele: A | direction: none | source: pmid:11788828
Genotype A,A framing only
homozygous persistence; qualitative trait framing
Genotype G,A framing only
heterozygous persistence; qualitative trait framing
Genotype G,G framing only
non-persistence reference
rs505922 ABO
verified: false | effect allele: C | direction: none | source: pmid:19648918
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs564481 KL
verified: true | effect allele: C | direction: none | source: editorial_determination:rs564481-no-displayable-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype T,C framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs5751876 ADORA2A
verified: true | effect allele: T | direction: none | source: editorial_determination:rs5751876-no-effect-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype T,C framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs6025 F5 / Factor V Leiden
verified: true | effect allele: T | direction: risk | source: clinvar:RCV000000123
Genotype C,C framing only
reference homozygote (non-carrier)
Genotype C,T displays a number
| value | 3.5 |
|---|
| metric | RR |
|---|
| trait | venous thrombosis |
|---|
| zygosity basis | het |
|---|
| source | 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
carrier without displayable cited figure for this zygosity
rs6265 BDNF
verified: true | effect allele: T | direction: none | source: editorial_determination:rs6265-no-effect-estimate
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs641120 SORL1
verified: true | effect allele: (absent) | direction: none | source: editorial_determination:rs641120-no-single-direction
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs6511720 LDLR
verified: true | effect allele: T | direction: none | source: gwas_catalog:rs6511720-T
Genotype G,G framing only
authoritatively pinned framing-only
Genotype T,G framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs6656401 CR1
verified: true | effect allele: A | direction: risk | source: gwas_catalog:rs6656401-A
Genotype A,A displays a number
| value | 1.21 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | het |
|---|
| source | 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 displays a number
| value | 1.21 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | het |
|---|
| source | 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
reference homozygote (non-carrier)
rs693 APOB
verified: true | effect allele: A | direction: none | source: gwas_catalog:rs693-A
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs6983267 8q24
verified: false | effect allele: G | direction: none | source: pmid:17618284
Genotype G,G framing only
authoritatively pinned framing-only
Genotype G,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs7412 APOE
verified: true | effect allele: (absent) | direction: none | source: pmid:9343467
rs7561528 BIN1
verified: true | effect allele: (absent) | direction: none | source: gwas_catalog:rs7561528-A
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,G framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs7574865 STAT4
verified: false | effect allele: T | direction: none | source: pmid:17804842
Genotype G,G framing only
authoritatively pinned framing-only
Genotype T,G framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs75932628 TREM2
verified: true | effect allele: T | direction: risk | source: pmid:23150908
Genotype C,C framing only
reference homozygote (non-carrier)
Genotype C,T displays a number
| value | 2.92 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 displays a number
| value | 2.92 |
|---|
| metric | OR |
|---|
| trait | Alzheimer's disease |
|---|
| zygosity basis | per_allele |
|---|
| source | 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 | source: editorial_determination:rs762551-no-effect-estimate
Genotype A,A framing only
authoritatively pinned framing-only
Genotype A,C framing only
authoritatively pinned framing-only
Genotype C,C framing only
authoritatively pinned framing-only
rs7903146 TCF7L2
verified: true | effect allele: T | direction: risk | source: gwas_catalog:rs7903146-T
Genotype C,C framing only
reference homozygote (non-carrier)
Genotype C,T displays a number
| value | 1.45 |
|---|
| metric | RR |
|---|
| trait | type 2 diabetes |
|---|
| zygosity basis | het |
|---|
| source | 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
carrier without displayable cited figure for this zygosity
rs910873 ASIP
verified: false | effect allele: G | direction: none | source: pmid:18488026
Genotype A,A framing only
authoritatively pinned framing-only
Genotype G,A framing only
authoritatively pinned framing-only
Genotype G,G framing only
authoritatively pinned framing-only
rs9527025 KL
verified: true | effect allele: C | direction: disadvantage | source: pmid:11792841
Genotype C,C framing only
homozygous KL-VS; overdominance; cited figure not displayed
Genotype C,G framing only
heterozygote advantage genotype; qualitative display
Genotype G,G framing only
reference homozygote (non-carrier of KL-VS C allele)
rs9536314 KL
verified: true | effect allele: G | direction: disadvantage | source: pmid:11792841
Genotype G,G framing only
homozygous KL-VS; overdominance; cited figure not displayed
Genotype T,G framing only
heterozygote advantage genotype; qualitative display
Genotype T,T framing only
reference homozygote (non-carrier of KL-VS G allele)
rs9543325 13q22.1
verified: false | effect allele: C | direction: none | source: pmid:20101243
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only
rs9923231 VKORC1
verified: true | effect allele: T | direction: none | source: cpic:VKORC1-warfarin
Genotype C,C framing only
authoritatively pinned framing-only
Genotype C,T framing only
authoritatively pinned framing-only
Genotype T,T framing only
authoritatively pinned framing-only