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rs193921147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193921147(C;T)
Make rs193921147(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position148809340
GeneEZH2
is asnp
is mentioned by
dbSNPrs193921147
ebirs193921147
HLIrs193921147
Exacrs193921147
Varsomers193921147
Maprs193921147
PheGenIrs193921147
hapmaprs193921147
1000 genomesrs193921147
hgdprs193921147
ensemblrs193921147
gopubmedrs193921147
geneviewrs193921147
scholarrs193921147
googlers193921147
pharmgkbrs193921147
gwascentralrs193921147
openSNPrs193921147
23andMers193921147
23andMe allrs193921147
SNP Nexus

SNPshotrs193921147
SNPdbers193921147
MSV3drs193921147
GWAS Ctlgrs193921147
Max Magnitude0
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 22177091OA-icon.png] Mutations in EZH2 cause Weaver syndrome.