rs121434252

Orientation

minus

Stabilized

minus

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

Make rs121434252(C;G)

Make rs121434252(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

31529370

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434252
dbSNP (classic)	rs121434252
ClinGen	rs121434252
ebi	rs121434252
HLI	rs121434252
Exac	rs121434252
Gnomad	rs121434252
Varsome	rs121434252
LitVar	rs121434252
Map	rs121434252
PheGenI	rs121434252
Biobank	rs121434252
1000 genomes	rs121434252
hgdp	rs121434252
ensembl	rs121434252
geneview	rs121434252
scholar	rs121434252
google	rs121434252
pharmgkb	rs121434252
gwascentral	rs121434252
openSNP	rs121434252
23andMe	rs121434252
SNPshot	rs121434252
SNPdbe	rs121434252
MSV3d	rs121434252
GWAS Ctlg	rs121434252

Max Magnitude

0

OMIM	607306
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121434252(G;G)
Alt	rs121434252(G;G)
Reference	Rs121434252(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.31754440G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003512.4,