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rs121918342

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918342(C;T)
Make rs121918342(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position138106621
GeneAKR1D1
is asnp
is mentioned by
dbSNPrs121918342
ebirs121918342
HLIrs121918342
Exacrs121918342
Varsomers121918342
Maprs121918342
PheGenIrs121918342
hapmaprs121918342
1000 genomesrs121918342
hgdprs121918342
ensemblrs121918342
gopubmedrs121918342
geneviewrs121918342
scholarrs121918342
googlers121918342
pharmgkbrs121918342
gwascentralrs121918342
openSNPrs121918342
23andMers121918342
23andMe allrs121918342
SNP Nexus

SNPshotrs121918342
SNPdbers121918342
MSV3drs121918342
GWAS Ctlgrs121918342
Max Magnitude0
OMIM604741
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918342(T;T)
Alt rs121918342(T;T)
Reference rs121918342(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.137791367C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005705.3,