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rs146494374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146494374(C;T)
Make rs146494374(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186210508
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs146494374
ebirs146494374
HLIrs146494374
Exacrs146494374
Varsomers146494374
Maprs146494374
PheGenIrs146494374
hapmaprs146494374
1000 genomesrs146494374
hgdprs146494374
ensemblrs146494374
gopubmedrs146494374
geneviewrs146494374
scholarrs146494374
googlers146494374
pharmgkbrs146494374
gwascentralrs146494374
openSNPrs146494374
23andMers146494374
23andMe allrs146494374
SNP Nexus

SNPshotrs146494374
SNPdbers146494374
MSV3drs146494374
GWAS Ctlgrs146494374
Max Magnitude0
ClinVar
Risk rs146494374(A,T;A,T)
Alt rs146494374(A,T;A,T)
Reference rs146494374(C;C)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187131662C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032534.2,