rs121434250

Orientation

minus

Stabilized

minus

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

Make rs121434250(A;A)

Make rs121434250(A;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

31529419

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434250
dbSNP (classic)	rs121434250
ClinGen	rs121434250
ebi	rs121434250
HLI	rs121434250
Exac	rs121434250
Gnomad	rs121434250
Varsome	rs121434250
LitVar	rs121434250
Map	rs121434250
PheGenI	rs121434250
Biobank	rs121434250
1000 genomes	rs121434250
hgdp	rs121434250
ensembl	rs121434250
geneview	rs121434250
scholar	rs121434250
google	rs121434250
pharmgkb	rs121434250
gwascentral	rs121434250
openSNP	rs121434250
23andMe	rs121434250
SNPshot	rs121434250
SNPdbe	rs121434250
MSV3d	rs121434250
GWAS Ctlg	rs121434250

Max Magnitude

0

OMIM	607306
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121434250(A;A)
Alt	rs121434250(A;A)
Reference	Rs121434250(G;G)
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.31754489C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003509.4,