rs28931608

Orientation

plus

Stabilized

plus

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

Make rs28931608(A;A)

Make rs28931608(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

75985179

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs28931608
dbSNP (classic)	rs28931608
ClinGen	rs28931608
ebi	rs28931608
HLI	rs28931608
Exac	rs28931608
Gnomad	rs28931608
Varsome	rs28931608
LitVar	rs28931608
Map	rs28931608
PheGenI	rs28931608
Biobank	rs28931608
1000 genomes	rs28931608
hgdp	rs28931608
ensembl	rs28931608
geneview	rs28931608
scholar	rs28931608
google	rs28931608
pharmgkb	rs28931608
gwascentral	rs28931608
openSNP	rs28931608
23andMe	rs28931608
SNPshot	rs28931608
SNPdbe	rs28931608
MSV3d	rs28931608
GWAS Ctlg	rs28931608

GMAF

0.0004591

Max Magnitude

0

OMIM	124015
Desc	POR DEFICIENCY
Variant	0005
Related	also

ClinVar
Risk	rs28931608(A;A)
Alt	rs28931608(A;A)
Reference	Rs28931608(G;G)
Significance	Other
Disease	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Variation	info
Gene	POR
CLNDBN	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Reversed	0
HGVS	NC_000007.13:g.75614497G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018406.29, RCV000018407.29,