rs121918343

Orientation

plus

Stabilized

plus

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

Make rs121918343(C;T)

Make rs121918343(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

138091822

Gene

AKR1D1

is a	snp
is	mentioned by
dbSNP	rs121918343
dbSNP (classic)	rs121918343
ClinGen	rs121918343
ebi	rs121918343
HLI	rs121918343
Exac	rs121918343
Gnomad	rs121918343
Varsome	rs121918343
LitVar	rs121918343
Map	rs121918343
PheGenI	rs121918343
Biobank	rs121918343
1000 genomes	rs121918343
hgdp	rs121918343
ensembl	rs121918343
geneview	rs121918343
scholar	rs121918343
google	rs121918343
pharmgkb	rs121918343
gwascentral	rs121918343
openSNP	rs121918343
23andMe	rs121918343
SNPshot	rs121918343
SNPdbe	rs121918343
MSV3d	rs121918343
GWAS Ctlg	rs121918343

Max Magnitude

0

OMIM	604741
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918343(T;T)
Alt	rs121918343(T;T)
Reference	Rs121918343(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.137776568C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005707.3,