rs121434251

Orientation

minus

Stabilized

minus

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

Make rs121434251(A;G)

Make rs121434251(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

31529313

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434251
dbSNP (classic)	rs121434251
ClinGen	rs121434251
ebi	rs121434251
HLI	rs121434251
Exac	rs121434251
Gnomad	rs121434251
Varsome	rs121434251
LitVar	rs121434251
Map	rs121434251
PheGenI	rs121434251
Biobank	rs121434251
1000 genomes	rs121434251
hgdp	rs121434251
ensembl	rs121434251
geneview	rs121434251
scholar	rs121434251
google	rs121434251
pharmgkb	rs121434251
gwascentral	rs121434251
openSNP	rs121434251
23andMe	rs121434251
SNPshot	rs121434251
SNPdbe	rs121434251
MSV3d	rs121434251
GWAS Ctlg	rs121434251

Max Magnitude

0

OMIM	607306
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121434251(G;G)
Alt	rs121434251(G;G)
Reference	Rs121434251(A;A)
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.31754383T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003510.4,