rs121434249

Orientation

minus

Stabilized

minus

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

Make rs121434249(A;A)

Make rs121434249(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

31529323

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434249
dbSNP (classic)	rs121434249
ClinGen	rs121434249
ebi	rs121434249
HLI	rs121434249
Exac	rs121434249
Gnomad	rs121434249
Varsome	rs121434249
LitVar	rs121434249
Map	rs121434249
PheGenI	rs121434249
Biobank	rs121434249
1000 genomes	rs121434249
hgdp	rs121434249
ensembl	rs121434249
geneview	rs121434249
scholar	rs121434249
google	rs121434249
pharmgkb	rs121434249
gwascentral	rs121434249
openSNP	rs121434249
23andMe	rs121434249
SNPshot	rs121434249
SNPdbe	rs121434249
MSV3d	rs121434249
GWAS Ctlg	rs121434249

Max Magnitude

0

OMIM	607306
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121434249(A;A) rs121434249(C;C)
Alt	rs121434249(A;A) rs121434249(C;C)
Reference	Rs121434249(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.31754393C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003508.5,