rs121912975

Orientation

plus

Stabilized

plus

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

Make rs121912975(A;G)

Make rs121912975(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

75985986

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs121912975
dbSNP (classic)	rs121912975
ClinGen	rs121912975
ebi	rs121912975
HLI	rs121912975
Exac	rs121912975
Gnomad	rs121912975
Varsome	rs121912975
LitVar	rs121912975
Map	rs121912975
PheGenI	rs121912975
Biobank	rs121912975
1000 genomes	rs121912975
hgdp	rs121912975
ensembl	rs121912975
geneview	rs121912975
scholar	rs121912975
google	rs121912975
pharmgkb	rs121912975
gwascentral	rs121912975
openSNP	rs121912975
23andMe	rs121912975
SNPshot	rs121912975
SNPdbe	rs121912975
MSV3d	rs121912975
GWAS Ctlg	rs121912975

Max Magnitude

0

OMIM	124015
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121912975(G;G)
Alt	rs121912975(G;G)
Reference	Rs121912975(A;A)
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.75615304A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018411.30,