rs797044647

Orientation

minus

Stabilized

minus

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

Make rs797044647(-;C)

Make rs797044647(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

40053999

Gene

BCOR

is a	snp
is	mentioned by
dbSNP	rs797044647
dbSNP (classic)	rs797044647
ClinGen	rs797044647
ebi	rs797044647
HLI	rs797044647
Exac	rs797044647
Gnomad	rs797044647
Varsome	rs797044647
LitVar	rs797044647
Map	rs797044647
PheGenI	rs797044647
Biobank	rs797044647
1000 genomes	rs797044647
hgdp	rs797044647
ensembl	rs797044647
geneview	rs797044647
scholar	rs797044647
google	rs797044647
pharmgkb	rs797044647
gwascentral	rs797044647
openSNP	rs797044647
23andMe	rs797044647
SNPshot	rs797044647
SNPdbe	rs797044647
MSV3d	rs797044647
GWAS Ctlg	rs797044647

Max Magnitude

0

ClinVar
Risk	rs797044647(C;C)
Alt	rs797044647(C;C)
Reference	Rs797044647(-;-)
Significance	Pathogenic
Disease	Oculofaciocardiodental syndrome
Variation	info
Gene	BCOR
CLNDBN	Oculofaciocardiodental syndrome
Reversed	1
HGVS	NC_000023.10:g.39913253dupG
CLNSRC
CLNACC	RCV000174783.1,