rs1057519091

Orientation

minus

Stabilized

minus

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

Make rs1057519091(C;G)

Make rs1057519091(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

31529311

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs1057519091
dbSNP (classic)	rs1057519091
ClinGen	rs1057519091
ebi	rs1057519091
HLI	rs1057519091
Exac	rs1057519091
Gnomad	rs1057519091
Varsome	rs1057519091
LitVar	rs1057519091
Map	rs1057519091
PheGenI	rs1057519091
Biobank	rs1057519091
1000 genomes	rs1057519091
hgdp	rs1057519091
ensembl	rs1057519091
geneview	rs1057519091
scholar	rs1057519091
google	rs1057519091
pharmgkb	rs1057519091
gwascentral	rs1057519091
openSNP	rs1057519091
23andMe	rs1057519091
SNPshot	rs1057519091
SNPdbe	rs1057519091
MSV3d	rs1057519091
GWAS Ctlg	rs1057519091

Max Magnitude

0

ClinVar
Risk	rs1057519091(G;G)
Alt	rs1057519091(G;G)
Reference	Rs1057519091(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.31754381G>C
CLNSRC
CLNACC	RCV000416333.1,