rs267606649

Orientation

plus

Stabilized

plus

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

Make rs267606649(C;G)

Make rs267606649(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

138097885

Gene

AKR1D1

is a	snp
is	mentioned by
dbSNP	rs267606649
dbSNP (classic)	rs267606649
ClinGen	rs267606649
ebi	rs267606649
HLI	rs267606649
Exac	rs267606649
Gnomad	rs267606649
Varsome	rs267606649
LitVar	rs267606649
Map	rs267606649
PheGenI	rs267606649
Biobank	rs267606649
1000 genomes	rs267606649
hgdp	rs267606649
ensembl	rs267606649
geneview	rs267606649
scholar	rs267606649
google	rs267606649
pharmgkb	rs267606649
gwascentral	rs267606649
openSNP	rs267606649
23andMe	rs267606649
SNPshot	rs267606649
SNPdbe	rs267606649
MSV3d	rs267606649
GWAS Ctlg	rs267606649

Max Magnitude

0

ClinVar
Risk	rs267606649(G;G)
Alt	rs267606649(G;G)
Reference	Rs267606649(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.137782631C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005708.3,