rs121912976

Orientation

plus

Stabilized

plus

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

Make rs121912976(A;A)

Make rs121912976(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

75985795

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs121912976
dbSNP (classic)	rs121912976
ClinGen	rs121912976
ebi	rs121912976
HLI	rs121912976
Exac	rs121912976
Gnomad	rs121912976
Varsome	rs121912976
LitVar	rs121912976
Map	rs121912976
PheGenI	rs121912976
Biobank	rs121912976
1000 genomes	rs121912976
hgdp	rs121912976
ensembl	rs121912976
geneview	rs121912976
scholar	rs121912976
google	rs121912976
pharmgkb	rs121912976
gwascentral	rs121912976
openSNP	rs121912976
23andMe	rs121912976
SNPshot	rs121912976
SNPdbe	rs121912976
MSV3d	rs121912976
GWAS Ctlg	rs121912976

Max Magnitude

0

OMIM	124015
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121912976(A;A) rs121912976(C;C)
Alt	rs121912976(A;A) rs121912976(C;C)
Reference	Rs121912976(G;G)
Significance	Pathogenic
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.75615113G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018415.29, RCV000018416.29,