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rs587783626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783626(C;T)
Make rs587783626(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position148809370
GeneEZH2
is asnp
is mentioned by
dbSNPrs587783626
dbSNP (classic)rs587783626
ClinGenrs587783626
ebirs587783626
HLIrs587783626
Exacrs587783626
Gnomadrs587783626
Varsomers587783626
LitVarrs587783626
Maprs587783626
PheGenIrs587783626
Biobankrs587783626
1000 genomesrs587783626
hgdprs587783626
ensemblrs587783626
geneviewrs587783626
scholarrs587783626
googlers587783626
pharmgkbrs587783626
gwascentralrs587783626
openSNPrs587783626
23andMers587783626
SNPshotrs587783626
SNPdbers587783626
MSV3drs587783626
GWAS Ctlgrs587783626
Max Magnitude0
ClinVar
Risk rs587783626(T;T)
Alt rs587783626(T;T)
Reference Rs587783626(C;C)
Significance Pathogenic
Disease Weaver syndrome
Variation info
Gene EZH2
CLNDBN Weaver syndrome
Reversed 1
HGVS NC_000007.13:g.148506462G>A
CLNSRC
CLNACC RCV000145975.1,