rs267606650

Orientation

plus

Stabilized

plus

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

Make rs267606650(C;T)

Make rs267606650(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

138107506

Gene

AKR1D1

is a	snp
is	mentioned by
dbSNP	rs267606650
dbSNP (classic)	rs267606650
ClinGen	rs267606650
ebi	rs267606650
HLI	rs267606650
Exac	rs267606650
Gnomad	rs267606650
Varsome	rs267606650
LitVar	rs267606650
Map	rs267606650
PheGenI	rs267606650
Biobank	rs267606650
1000 genomes	rs267606650
hgdp	rs267606650
ensembl	rs267606650
geneview	rs267606650
scholar	rs267606650
google	rs267606650
pharmgkb	rs267606650
gwascentral	rs267606650
openSNP	rs267606650
23andMe	rs267606650
SNPshot	rs267606650
SNPdbe	rs267606650
MSV3d	rs267606650
GWAS Ctlg	rs267606650

Max Magnitude

0

ClinVar
Risk	rs267606650(T;T)
Alt	rs267606650(T;T)
Reference	Rs267606650(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.137792252C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005709.3,