rs28931606

Orientation

plus

Stabilized

plus

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

Make rs28931606(A;A)

Make rs28931606(A;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

75985655

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs28931606
dbSNP (classic)	rs28931606
ClinGen	rs28931606
ebi	rs28931606
HLI	rs28931606
Exac	rs28931606
Gnomad	rs28931606
Varsome	rs28931606
LitVar	rs28931606
Map	rs28931606
PheGenI	rs28931606
Biobank	rs28931606
1000 genomes	rs28931606
hgdp	rs28931606
ensembl	rs28931606
geneview	rs28931606
scholar	rs28931606
google	rs28931606
pharmgkb	rs28931606
gwascentral	rs28931606
openSNP	rs28931606
23andMe	rs28931606
SNPshot	rs28931606
SNPdbe	rs28931606
MSV3d	rs28931606
GWAS Ctlg	rs28931606

Max Magnitude

0

OMIM	124015
Desc	POR DEFICIENCY
Variant	0001
Related	also

ClinVar
Risk	rs28931606(A;A)
Alt	rs28931606(A;A)
Reference	Rs28931606(T;T)
Significance	Pathogenic
Disease	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Variation	info
Gene	POR
CLNDBN	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Reversed	0
HGVS	NC_000007.13:g.75614973T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018400.28,