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rs267606650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606650(C;T)
Make rs267606650(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position138107506
GeneAKR1D1
is asnp
is mentioned by
dbSNPrs267606650
ebirs267606650
HLIrs267606650
Exacrs267606650
Varsomers267606650
Maprs267606650
PheGenIrs267606650
hapmaprs267606650
1000 genomesrs267606650
hgdprs267606650
ensemblrs267606650
gopubmedrs267606650
geneviewrs267606650
scholarrs267606650
googlers267606650
pharmgkbrs267606650
gwascentralrs267606650
openSNPrs267606650
23andMers267606650
23andMe allrs267606650
SNP Nexus

SNPshotrs267606650
SNPdbers267606650
MSV3drs267606650
GWAS Ctlgrs267606650
Max Magnitude0
ClinVar
Risk rs267606650(T;T)
Alt rs267606650(T;T)
Reference rs267606650(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.137792252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005709.3,