rs121434618

Orientation

minus

Stabilized

minus

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

Make rs121434618(C;T)

Make rs121434618(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

40075092

Gene

BCOR

is a	snp
is	mentioned by
dbSNP	rs121434618
dbSNP (classic)	rs121434618
ClinGen	rs121434618
ebi	rs121434618
HLI	rs121434618
Exac	rs121434618
Gnomad	rs121434618
Varsome	rs121434618
LitVar	rs121434618
Map	rs121434618
PheGenI	rs121434618
Biobank	rs121434618
1000 genomes	rs121434618
hgdp	rs121434618
ensembl	rs121434618
geneview	rs121434618
scholar	rs121434618
google	rs121434618
pharmgkb	rs121434618
gwascentral	rs121434618
openSNP	rs121434618
23andMe	rs121434618
SNPshot	rs121434618
SNPdbe	rs121434618
MSV3d	rs121434618
GWAS Ctlg	rs121434618

Merged from

Rs28935183

Max Magnitude

0

OMIM	300485
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434618(T;T)
Alt	rs121434618(T;T)
Reference	Rs121434618(C;C)
Significance	Pathogenic
Disease	Oculofaciocardiodental syndrome
Variation	info
Gene	BCOR
CLNDBN	Oculofaciocardiodental syndrome
Reversed	1
HGVS	NC_000023.10:g.39934345G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011658.8,