rs786205099

Orientation

plus

Stabilized

plus

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

Make rs786205099(A;A)

Make rs786205099(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

75981607

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs786205099
dbSNP (classic)	rs786205099
ClinGen	rs786205099
ebi	rs786205099
HLI	rs786205099
Exac	rs786205099
Gnomad	rs786205099
Varsome	rs786205099
LitVar	rs786205099
Map	rs786205099
PheGenI	rs786205099
Biobank	rs786205099
1000 genomes	rs786205099
hgdp	rs786205099
ensembl	rs786205099
geneview	rs786205099
scholar	rs786205099
google	rs786205099
pharmgkb	rs786205099
gwascentral	rs786205099
openSNP	rs786205099
23andMe	rs786205099
SNPshot	rs786205099
SNPdbe	rs786205099
MSV3d	rs786205099
GWAS Ctlg	rs786205099

Max Magnitude

0

ClinVar
Risk	rs786205099(A;A)
Alt	rs786205099(A;A)
Reference	Rs786205099(G;G)
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.75610925G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018404.30,