rs121434619

Orientation

minus

Stabilized

minus

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

Make rs121434619(C;T)

Make rs121434619(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

40072420

Gene

BCOR

is a	snp
is	mentioned by
dbSNP	rs121434619
dbSNP (classic)	rs121434619
ClinGen	rs121434619
ebi	rs121434619
HLI	rs121434619
Exac	rs121434619
Gnomad	rs121434619
Varsome	rs121434619
LitVar	rs121434619
Map	rs121434619
PheGenI	rs121434619
Biobank	rs121434619
1000 genomes	rs121434619
hgdp	rs121434619
ensembl	rs121434619
geneview	rs121434619
scholar	rs121434619
google	rs121434619
pharmgkb	rs121434619
gwascentral	rs121434619
openSNP	rs121434619
23andMe	rs121434619
SNPshot	rs121434619
SNPdbe	rs121434619
MSV3d	rs121434619
GWAS Ctlg	rs121434619

Max Magnitude

0

OMIM	300485
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434619(T;T)
Alt	rs121434619(T;T)
Reference	Rs121434619(C;C)
Significance	Pathogenic
Disease	Oculofaciocardiodental syndrome
Variation	info
Gene	BCOR
CLNDBN	Oculofaciocardiodental syndrome
Reversed	1
HGVS	NC_000023.10:g.39931673G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011660.10,