rs121918342

Orientation

plus

Stabilized

plus

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

Make rs121918342(C;T)

Make rs121918342(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

138106621

Gene

AKR1D1

is a	snp
is	mentioned by
dbSNP	rs121918342
dbSNP (classic)	rs121918342
ClinGen	rs121918342
ebi	rs121918342
HLI	rs121918342
Exac	rs121918342
Gnomad	rs121918342
Varsome	rs121918342
LitVar	rs121918342
Map	rs121918342
PheGenI	rs121918342
Biobank	rs121918342
1000 genomes	rs121918342
hgdp	rs121918342
ensembl	rs121918342
geneview	rs121918342
scholar	rs121918342
google	rs121918342
pharmgkb	rs121918342
gwascentral	rs121918342
openSNP	rs121918342
23andMe	rs121918342
SNPshot	rs121918342
SNPdbe	rs121918342
MSV3d	rs121918342
GWAS Ctlg	rs121918342

Max Magnitude

0

OMIM	604741
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918342(T;T)
Alt	rs121918342(T;T)
Reference	Rs121918342(C;C)
Significance	Pathogenic
Disease	Bile acid synthesis defect not specified not provided
Variation	info
Gene	AKR1D1
CLNDBN	Bile acid synthesis defect, congenital, 2 not specified not provided
Reversed	0
HGVS	NC_000007.13:g.137791367C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005705.3, RCV000270793.1, RCV000426000.1,