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rs121918343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918343(C;T)
Make rs121918343(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position138091822
GeneAKR1D1
is asnp
is mentioned by
dbSNPrs121918343
ebirs121918343
HLIrs121918343
Exacrs121918343
Varsomers121918343
Maprs121918343
PheGenIrs121918343
hapmaprs121918343
1000 genomesrs121918343
hgdprs121918343
ensemblrs121918343
gopubmedrs121918343
geneviewrs121918343
scholarrs121918343
googlers121918343
pharmgkbrs121918343
gwascentralrs121918343
openSNPrs121918343
23andMers121918343
23andMe allrs121918343
SNP Nexus

SNPshotrs121918343
SNPdbers121918343
MSV3drs121918343
GWAS Ctlgrs121918343
Max Magnitude0
OMIM604741
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918343(T;T)
Alt rs121918343(T;T)
Reference rs121918343(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.137776568C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005707.3,