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rs193921148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193921148(C;T)
Make rs193921148(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position148829818
GeneEZH2
is asnp
is mentioned by
dbSNPrs193921148
ebirs193921148
HLIrs193921148
Exacrs193921148
Varsomers193921148
Maprs193921148
PheGenIrs193921148
hapmaprs193921148
1000 genomesrs193921148
hgdprs193921148
ensemblrs193921148
gopubmedrs193921148
geneviewrs193921148
scholarrs193921148
googlers193921148
pharmgkbrs193921148
gwascentralrs193921148
openSNPrs193921148
23andMers193921148
23andMe allrs193921148
SNP Nexus

SNPshotrs193921148
SNPdbers193921148
MSV3drs193921148
GWAS Ctlgrs193921148
Max Magnitude0
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
CLNACC RCV000023119.3,


[PMID 22177091OA-icon.png] Mutations in EZH2 cause Weaver syndrome.