rs786205875

Orientation

plus

Stabilized

plus

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

Make rs786205875(-;C)

Make rs786205875(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

75985138

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs786205875
dbSNP (classic)	rs786205875
ClinGen	rs786205875
ebi	rs786205875
HLI	rs786205875
Exac	rs786205875
Gnomad	rs786205875
Varsome	rs786205875
LitVar	rs786205875
Map	rs786205875
PheGenI	rs786205875
Biobank	rs786205875
1000 genomes	rs786205875
hgdp	rs786205875
ensembl	rs786205875
geneview	rs786205875
scholar	rs786205875
google	rs786205875
pharmgkb	rs786205875
gwascentral	rs786205875
openSNP	rs786205875
23andMe	rs786205875
SNPshot	rs786205875
SNPdbe	rs786205875
MSV3d	rs786205875
GWAS Ctlg	rs786205875

Max Magnitude

0

ClinVar
Risk	rs786205875(C;C)
Alt	rs786205875(C;C)
Reference	Rs786205875(-;-)
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.75614456dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018410.29,