rs201988060

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs201988060(G;T)

Make rs201988060(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

7

Position

138088769

Gene

AKR1D1

is a	snp
is	mentioned by
dbSNP	rs201988060
dbSNP (classic)	rs201988060
ClinGen	rs201988060
ebi	rs201988060
HLI	rs201988060
Exac	rs201988060
Gnomad	rs201988060
Varsome	rs201988060
LitVar	rs201988060
Map	rs201988060
PheGenI	rs201988060
Biobank	rs201988060
1000 genomes	rs201988060
hgdp	rs201988060
ensembl	rs201988060
geneview	rs201988060
scholar	rs201988060
google	rs201988060
pharmgkb	rs201988060
gwascentral	rs201988060
openSNP	rs201988060
23andMe	rs201988060
SNPshot	rs201988060
SNPdbe	rs201988060
MSV3d	rs201988060
GWAS Ctlg	rs201988060

Max Magnitude

0

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,