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rs587783625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783625(A;A)
Make rs587783625(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position148811696
GeneEZH2
is asnp
is mentioned by
dbSNPrs587783625
dbSNP (classic)rs587783625
ClinGenrs587783625
ebirs587783625
HLIrs587783625
Exacrs587783625
Gnomadrs587783625
Varsomers587783625
LitVarrs587783625
Maprs587783625
PheGenIrs587783625
Biobankrs587783625
1000 genomesrs587783625
hgdprs587783625
ensemblrs587783625
geneviewrs587783625
scholarrs587783625
googlers587783625
pharmgkbrs587783625
gwascentralrs587783625
openSNPrs587783625
23andMers587783625
SNPshotrs587783625
SNPdbers587783625
MSV3drs587783625
GWAS Ctlgrs587783625
Max Magnitude0
ClinVar
Risk rs587783625(A;A)
Alt rs587783625(A;A)
Reference Rs587783625(G;G)
Significance Pathogenic
Disease Weaver syndrome
Variation info
Gene EZH2
CLNDBN Weaver syndrome
Reversed 1
HGVS NC_000007.13:g.148508788C>T
CLNSRC
CLNACC RCV000145972.1,