rs730880013

Orientation

minus

Stabilized

minus

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

Make rs730880013(-;-)

Make rs730880013(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

40072733

Gene

BCOR

is a	snp
is	mentioned by
dbSNP	rs730880013
dbSNP (classic)	rs730880013
ClinGen	rs730880013
ebi	rs730880013
HLI	rs730880013
Exac	rs730880013
Gnomad	rs730880013
Varsome	rs730880013
LitVar	rs730880013
Map	rs730880013
PheGenI	rs730880013
Biobank	rs730880013
1000 genomes	rs730880013
hgdp	rs730880013
ensembl	rs730880013
geneview	rs730880013
scholar	rs730880013
google	rs730880013
pharmgkb	rs730880013
gwascentral	rs730880013
openSNP	rs730880013
23andMe	rs730880013
SNPshot	rs730880013
SNPdbe	rs730880013
MSV3d	rs730880013
GWAS Ctlg	rs730880013

Max Magnitude

0

ClinVar
Risk	rs730880013(-;-)
Alt	rs730880013(-;-)
Reference	Rs730880013(C;C)
Significance	Pathogenic
Disease	Oculofaciocardiodental syndrome
Variation	info
Gene	BCOR
CLNDBN	Oculofaciocardiodental syndrome
Reversed	1
HGVS	NC_000023.10:g.39931986delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011666.8,