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rs201988060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201988060(G;T)
Make rs201988060(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position138088769
GeneAKR1D1
is asnp
is mentioned by
dbSNPrs201988060
dbSNP (classic)rs201988060
ClinGenrs201988060
ebirs201988060
HLIrs201988060
Exacrs201988060
Gnomadrs201988060
Varsomers201988060
LitVarrs201988060
Maprs201988060
PheGenIrs201988060
Biobankrs201988060
1000 genomesrs201988060
hgdprs201988060
ensemblrs201988060
geneviewrs201988060
scholarrs201988060
googlers201988060
pharmgkbrs201988060
gwascentralrs201988060
openSNPrs201988060
23andMers201988060
23andMe allrs201988060
SNPshotrs201988060
SNPdbers201988060
MSV3drs201988060
GWAS Ctlgrs201988060
Max Magnitude0
ClinVar
Risk rs201988060(C;C) rs201988060(T;T)
Alt rs201988060(C;C) rs201988060(T;T)
Reference Rs201988060(G;G)
Significance Probable-Pathogenic
Disease Bile acid synthesis defect
Variation info
Gene AKR1D1
CLNDBN Bile acid synthesis defect, congenital, 2
Reversed 0
HGVS NC_000007.13:g.137773515G>T
CLNSRC
CLNACC RCV000354707.1,