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rs267606649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606649(C;G)
Make rs267606649(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position138097885
GeneAKR1D1
is asnp
is mentioned by
dbSNPrs267606649
ebirs267606649
HLIrs267606649
Exacrs267606649
Varsomers267606649
Maprs267606649
PheGenIrs267606649
hapmaprs267606649
1000 genomesrs267606649
hgdprs267606649
ensemblrs267606649
gopubmedrs267606649
geneviewrs267606649
scholarrs267606649
googlers267606649
pharmgkbrs267606649
gwascentralrs267606649
openSNPrs267606649
23andMers267606649
23andMe allrs267606649
SNP Nexus

SNPshotrs267606649
SNPdbers267606649
MSV3drs267606649
GWAS Ctlgrs267606649
Max Magnitude0
ClinVar
Risk rs267606649(G;G)
Alt rs267606649(G;G)
Reference rs267606649(C;C)
Significance Pathogenic
Disease Bile acid synthesis defect
Variation info
Gene AKR1D1
CLNDBN Bile acid synthesis defect, congenital, 2
Reversed 0
HGVS NC_000007.13:g.137782631C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005708.3,