rs1060499834

Orientation

minus

Stabilized

minus

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

Make rs1060499834(C;T)

Make rs1060499834(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

31580690

Gene

SRD5A2

is a	snp
is	mentioned by
dbSNP	rs1060499834
dbSNP (classic)	rs1060499834
ClinGen	rs1060499834
ebi	rs1060499834
HLI	rs1060499834
Exac	rs1060499834
Gnomad	rs1060499834
Varsome	rs1060499834
LitVar	rs1060499834
Map	rs1060499834
PheGenI	rs1060499834
Biobank	rs1060499834
1000 genomes	rs1060499834
hgdp	rs1060499834
ensembl	rs1060499834
geneview	rs1060499834
scholar	rs1060499834
google	rs1060499834
pharmgkb	rs1060499834
gwascentral	rs1060499834
openSNP	rs1060499834
23andMe	rs1060499834
SNPshot	rs1060499834
SNPdbe	rs1060499834
MSV3d	rs1060499834
GWAS Ctlg	rs1060499834

Max Magnitude

0

ClinVar
Risk	rs1060499834(T;T)
Alt	rs1060499834(T;T)
Reference	Rs1060499834(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.31805760G>A
CLNSRC
CLNACC	RCV000469192.1,