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rs12994401

From SNPedia

Orientationplus
Stabilizedplus
Make rs12994401(C;C)
Make rs12994401(C;T)
Make rs12994401(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position51845108
GeneAC007682.1
is asnp
is mentioned by
dbSNPrs12994401
ebirs12994401
HLIrs12994401
Exacrs12994401
Varsomers12994401
Maprs12994401
PheGenIrs12994401
hapmaprs12994401
1000 genomesrs12994401
hgdprs12994401
ensemblrs12994401
gopubmedrs12994401
geneviewrs12994401
scholarrs12994401
googlers12994401
pharmgkbrs12994401
gwascentralrs12994401
openSNPrs12994401
23andMers12994401
23andMe allrs12994401
SNP Nexus

SNPshotrs12994401
SNPdbers12994401
MSV3drs12994401
GWAS Ctlgrs12994401
GMAF0.2057
Max Magnitude
? (C;C) (C;T) (T;T) 28
23andMe blog citing [PMID 19805132OA-icon.png] in an Afro-Caribbean population rs12994401(T;T) had almost 35 times higher odds of primary open-angle glaucoma. This correlation was not found in Japanese [PMID 20424111OA-icon.png], Korean [PMID 21552472OA-icon.png], Chinese [PMID 22773901OA-icon.png], African or Central European [PMID 23136999] populations. In African-American population correlation was for the reverse allele C. This suggest as yet unidentified causal variant with population dependent linkage to rs12994401 is responsible [PMID 17273975OA-icon.png]. South-Indian cohort evaluation [PMID 22410552] suggests rs10202118 as one contributor, while Chinese study [PMID 22773901OA-icon.png] suggests rs1533428 contribution. However, an analysis of extended chromosome locus 2p14-21 [PMID 21552472OA-icon.png] did not find such association, and meta-analysis by the Chinese study [PMID 22773901OA-icon.png] showed insignificant association to rs12994401 overall.


[PMID 19805132OA-icon.png] Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados


[PMID 21150032OA-icon.png] Complex genetic mechanisms in glaucoma: an overview.


[PMID 22410552] Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort


[PMID 23136999] Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population