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rs2814707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.2 >1.2x increased risk for ALS
(A;G) 1.2 1.2x increased risk for ALS
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome9
Position27536399
GeneLOC102724192
is asnp
is mentioned by
dbSNPrs2814707
ebirs2814707
HLIrs2814707
Exacrs2814707
Varsomers2814707
Maprs2814707
PheGenIrs2814707
hapmaprs2814707
1000 genomesrs2814707
hgdprs2814707
ensemblrs2814707
gopubmedrs2814707
geneviewrs2814707
scholarrs2814707
googlers2814707
pharmgkbrs2814707
gwascentralrs2814707
openSNPrs2814707
23andMers2814707
23andMe allrs2814707
SNP Nexus

SNPshotrs2814707
SNPdbers2814707
MSV3drs2814707
GWAS Ctlgrs2814707
GMAF0.1754
Max Magnitude1.2
? (A;A) (A;G) (G;G) 28
rs2814707 is one of 2 SNPs from the ch 9p21.2 region associated in a large GWAS study with ALS risk, the other SNP being rs3849942. In this study, the reported odds ratio for rs2814707(A) was 1.22 (CI: 1.15 - 1.30, p = 4.72 x 10e-10).[PMID 20801717OA-icon.png]

The odds ratio for the minor rs2814707(A) allele was 1.16 (p=7.45x10e-9).[PMID 19734901]

23andMe blog rs2814707(T) 1.16x odds of ALS

rs12608932(C) 1.2x odds of ALS


OMIM105550
Desc
Variant
Relatedalso
[PMID 20423481OA-icon.png] Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study.


[PMID 20706608OA-icon.png] The role of genetic variation near interferon-kappa in systemic lupus erythematosus.


[PMID 21295378] Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians.


GET Evidence
rs2814707
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.195312
summary