rs786205878

Orientation

plus

Stabilized

plus

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

Make rs786205878(-;TACGTGGACAAGC)

Make rs786205878(TACGTGGACAAGC;TACGTGGACAAGC)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

75981111

Gene

POR

is a	snp
is	mentioned by
dbSNP	rs786205878
dbSNP (classic)	rs786205878
ClinGen	rs786205878
ebi	rs786205878
HLI	rs786205878
Exac	rs786205878
Gnomad	rs786205878
Varsome	rs786205878
LitVar	rs786205878
Map	rs786205878
PheGenI	rs786205878
Biobank	rs786205878
1000 genomes	rs786205878
hgdp	rs786205878
ensembl	rs786205878
geneview	rs786205878
scholar	rs786205878
google	rs786205878
pharmgkb	rs786205878
gwascentral	rs786205878
openSNP	rs786205878
23andMe	rs786205878
SNPshot	rs786205878
SNPdbe	rs786205878
MSV3d	rs786205878
GWAS Ctlg	rs786205878

Max Magnitude

0

ClinVar
Risk	rs786205878(TACGTGGACAAGC;TACGTGGACAAGC)
Alt	rs786205878(TACGTGGACAAGC;TACGTGGACAAGC)
Reference	Rs786205878(-;-)
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.75610417_75610429dupTACGTGGACAAGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018414.24,