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rs797045568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045568(-;T)
Make rs797045568(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position148809078
GeneEZH2
is asnp
is mentioned by
dbSNPrs797045568
dbSNP (classic)rs797045568
ClinGenrs797045568
ebirs797045568
HLIrs797045568
Exacrs797045568
Gnomadrs797045568
Varsomers797045568
LitVarrs797045568
Maprs797045568
PheGenIrs797045568
Biobankrs797045568
1000 genomesrs797045568
hgdprs797045568
ensemblrs797045568
geneviewrs797045568
scholarrs797045568
googlers797045568
pharmgkbrs797045568
gwascentralrs797045568
openSNPrs797045568
23andMers797045568
SNPshotrs797045568
SNPdbers797045568
MSV3drs797045568
GWAS Ctlgrs797045568
Max Magnitude0
ClinVar
Risk rs797045568(T;T)
Alt rs797045568(T;T)
Reference Rs797045568(-;-)
Significance Pathogenic
Disease Weaver syndrome
Variation info
Gene EZH2
CLNDBN Weaver syndrome
Reversed 1
HGVS NC_000007.13:g.148506171dupA
CLNSRC
CLNACC RCV000192778.1,