rs730880034

Orientation

minus

Stabilized

minus

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

Make rs730880034(-;-)

Make rs730880034(-;CATGC)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

40062259

Gene

BCOR

is a	snp
is	mentioned by
dbSNP	rs730880034
dbSNP (classic)	rs730880034
ClinGen	rs730880034
ebi	rs730880034
HLI	rs730880034
Exac	rs730880034
Gnomad	rs730880034
Varsome	rs730880034
LitVar	rs730880034
Map	rs730880034
PheGenI	rs730880034
Biobank	rs730880034
1000 genomes	rs730880034
hgdp	rs730880034
ensembl	rs730880034
geneview	rs730880034
scholar	rs730880034
google	rs730880034
pharmgkb	rs730880034
gwascentral	rs730880034
openSNP	rs730880034
23andMe	rs730880034
SNPshot	rs730880034
SNPdbe	rs730880034
MSV3d	rs730880034
GWAS Ctlg	rs730880034

Max Magnitude

0

ClinVar
Risk	rs730880034(-;-)
Alt	rs730880034(-;-)
Reference	Rs730880034(CATGC;CATGC)
Significance	Pathogenic
Disease	Oculofaciocardiodental syndrome
Variation	info
Gene	BCOR
CLNDBN	Oculofaciocardiodental syndrome
Reversed	1
HGVS	NC_000023.10:g.39921512_39921516delGCATG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157082.4,