rs193921148

Orientation

minus

Stabilized

minus

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

Make rs193921148(C;T)

Make rs193921148(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

148829818

Gene

EZH2

is a	snp
is	mentioned by
dbSNP	rs193921148
dbSNP (classic)	rs193921148
ClinGen	rs193921148
ebi	rs193921148
HLI	rs193921148
Exac	rs193921148
Gnomad	rs193921148
Varsome	rs193921148
LitVar	rs193921148
Map	rs193921148
PheGenI	rs193921148
Biobank	rs193921148
1000 genomes	rs193921148
hgdp	rs193921148
ensembl	rs193921148
geneview	rs193921148
scholar	rs193921148
google	rs193921148
pharmgkb	rs193921148
gwascentral	rs193921148
openSNP	rs193921148
23andMe	rs193921148
SNPshot	rs193921148
SNPdbe	rs193921148
MSV3d	rs193921148
GWAS Ctlg	rs193921148

Max Magnitude

0

ClinVar
Risk	rs193921148(T;T)
Alt	rs193921148(T;T)
Reference	Rs193921148(C;C)
Significance	Pathogenic
Disease	Weaver syndrome
Variation	info
Gene	EZH2
CLNDBN	Weaver syndrome
Reversed	1
HGVS	NC_000007.13:g.148526910G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023119.3,

[PMID 22177091] Mutations in EZH2 cause Weaver syndrome.