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rs587783627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783627(A;G)
Make rs587783627(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position148807666
GeneEZH2
is asnp
is mentioned by
dbSNPrs587783627
dbSNP (classic)rs587783627
ClinGenrs587783627
ebirs587783627
HLIrs587783627
Exacrs587783627
Gnomadrs587783627
Varsomers587783627
LitVarrs587783627
Maprs587783627
PheGenIrs587783627
Biobankrs587783627
1000 genomesrs587783627
hgdprs587783627
ensemblrs587783627
geneviewrs587783627
scholarrs587783627
googlers587783627
pharmgkbrs587783627
gwascentralrs587783627
openSNPrs587783627
23andMers587783627
SNPshotrs587783627
SNPdbers587783627
MSV3drs587783627
GWAS Ctlgrs587783627
Max Magnitude0
ClinVar
Risk rs587783627(G;G)
Alt rs587783627(G;G)
Reference Rs587783627(A;A)
Significance Probable-Pathogenic
Disease Weaver syndrome
Variation info
Gene EZH2
CLNDBN Weaver syndrome
Reversed 1
HGVS NC_000007.13:g.148504758T>C
CLNSRC
CLNACC RCV000145978.1,