rs121434248

Orientation

minus

Stabilized

minus

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

Make rs121434248(C;T)

Make rs121434248(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

31529326

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs121434248
dbSNP (classic)	rs121434248
ClinGen	rs121434248
ebi	rs121434248
HLI	rs121434248
Exac	rs121434248
Gnomad	rs121434248
Varsome	rs121434248
LitVar	rs121434248
Map	rs121434248
PheGenI	rs121434248
Biobank	rs121434248
1000 genomes	rs121434248
hgdp	rs121434248
ensembl	rs121434248
geneview	rs121434248
scholar	rs121434248
google	rs121434248
pharmgkb	rs121434248
gwascentral	rs121434248
openSNP	rs121434248
23andMe	rs121434248
SNPshot	rs121434248
SNPdbe	rs121434248
MSV3d	rs121434248
GWAS Ctlg	rs121434248

Max Magnitude

0

OMIM	607306
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121434248(T;T)
Alt	rs121434248(T;T)
Reference	Rs121434248(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.31754396G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003506.4,