rs121434247

Orientation

minus

Stabilized

minus

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

Make rs121434247(A;A)

Make rs121434247(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

31531371

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434247
dbSNP (classic)	rs121434247
ClinGen	rs121434247
ebi	rs121434247
HLI	rs121434247
Exac	rs121434247
Gnomad	rs121434247
Varsome	rs121434247
LitVar	rs121434247
Map	rs121434247
PheGenI	rs121434247
Biobank	rs121434247
1000 genomes	rs121434247
hgdp	rs121434247
ensembl	rs121434247
geneview	rs121434247
scholar	rs121434247
google	rs121434247
pharmgkb	rs121434247
gwascentral	rs121434247
openSNP	rs121434247
23andMe	rs121434247
SNPshot	rs121434247
SNPdbe	rs121434247
MSV3d	rs121434247
GWAS Ctlg	rs121434247

Max Magnitude

0

OMIM	607306
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121434247(A;A)
Alt	rs121434247(A;A)
Reference	Rs121434247(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.31756441C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003505.4,