rs28931607

Orientation

plus

Stabilized

plus

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

Make rs28931607(A;A)

Make rs28931607(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

75985959

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs28931607
dbSNP (classic)	rs28931607
ClinGen	rs28931607
ebi	rs28931607
HLI	rs28931607
Exac	rs28931607
Gnomad	rs28931607
Varsome	rs28931607
LitVar	rs28931607
Map	rs28931607
PheGenI	rs28931607
Biobank	rs28931607
1000 genomes	rs28931607
hgdp	rs28931607
ensembl	rs28931607
geneview	rs28931607
scholar	rs28931607
google	rs28931607
pharmgkb	rs28931607
gwascentral	rs28931607
openSNP	rs28931607
23andMe	rs28931607
SNPshot	rs28931607
SNPdbe	rs28931607
MSV3d	rs28931607
GWAS Ctlg	rs28931607

Max Magnitude

0

OMIM	124015
Desc	DISORDERED STEROIDOGENESIS, ISOLATED
Variant	0003
Related	also

OMIM	124015
Desc
Variant	0008
Related	also

ClinVar
Risk	rs28931607(A;A)
Alt	rs28931607(A;A)
Reference	Rs28931607(G;G)
Significance	Pathogenic
Disease	Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Variation	info
Gene	POR
CLNDBN	Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Reversed	0
HGVS	NC_000007.13:g.75615277G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018402.24,