rs193921147

Orientation

minus

Stabilized

minus

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

Make rs193921147(C;T)

Make rs193921147(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

148809340

Gene

EZH2

is a	snp
is	mentioned by
dbSNP	rs193921147
dbSNP (classic)	rs193921147
ClinGen	rs193921147
ebi	rs193921147
HLI	rs193921147
Exac	rs193921147
Gnomad	rs193921147
Varsome	rs193921147
LitVar	rs193921147
Map	rs193921147
PheGenI	rs193921147
Biobank	rs193921147
1000 genomes	rs193921147
hgdp	rs193921147
ensembl	rs193921147
geneview	rs193921147
scholar	rs193921147
google	rs193921147
pharmgkb	rs193921147
gwascentral	rs193921147
openSNP	rs193921147
23andMe	rs193921147
SNPshot	rs193921147
SNPdbe	rs193921147
MSV3d	rs193921147
GWAS Ctlg	rs193921147

Max Magnitude

0

ClinVar
Risk	rs193921147(T;T)
Alt	rs193921147(T;T)
Reference	Rs193921147(C;C)
Significance	Pathogenic
Disease	Weaver syndrome
Variation	info
Gene	EZH2
CLNDBN	Weaver syndrome
Reversed	1
HGVS	NC_000007.13:g.148506432G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023118.3,

[PMID 22177091] Mutations in EZH2 cause Weaver syndrome.