rs121434244

Orientation

minus

Stabilized

minus

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

Make rs121434244(C;T)

Make rs121434244(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

31526225

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434244
dbSNP (classic)	rs121434244
ClinGen	rs121434244
ebi	rs121434244
HLI	rs121434244
Exac	rs121434244
Gnomad	rs121434244
Varsome	rs121434244
LitVar	rs121434244
Map	rs121434244
PheGenI	rs121434244
Biobank	rs121434244
1000 genomes	rs121434244
hgdp	rs121434244
ensembl	rs121434244
geneview	rs121434244
scholar	rs121434244
google	rs121434244
pharmgkb	rs121434244
gwascentral	rs121434244
openSNP	rs121434244
23andMe	rs121434244
SNPshot	rs121434244
SNPdbe	rs121434244
MSV3d	rs121434244
GWAS Ctlg	rs121434244

Max Magnitude

0

OMIM	607306
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434244(T;T)
Alt	rs121434244(T;T)
Reference	Rs121434244(C;C)
Significance	Pathogenic
Disease	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Variation	info
Gene	SRD5A2
CLNDBN	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Reversed	1
HGVS	NC_000002.11:g.31751295G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003501.4,