rs121434253

Orientation

minus

Stabilized

minus

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

Make rs121434253(G;T)

Make rs121434253(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

31529414

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434253
dbSNP (classic)	rs121434253
ClinGen	rs121434253
ebi	rs121434253
HLI	rs121434253
Exac	rs121434253
Gnomad	rs121434253
Varsome	rs121434253
LitVar	rs121434253
Map	rs121434253
PheGenI	rs121434253
Biobank	rs121434253
1000 genomes	rs121434253
hgdp	rs121434253
ensembl	rs121434253
geneview	rs121434253
scholar	rs121434253
google	rs121434253
pharmgkb	rs121434253
gwascentral	rs121434253
openSNP	rs121434253
23andMe	rs121434253
SNPshot	rs121434253
SNPdbe	rs121434253
MSV3d	rs121434253
GWAS Ctlg	rs121434253

Max Magnitude

0

OMIM	607306
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121434253(T;T)
Alt	rs121434253(T;T)
Reference	Rs121434253(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.31754484C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003513.5,