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rs797044844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044844(A;G)
Make rs797044844(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position148829754
GeneEZH2
is asnp
is mentioned by
dbSNPrs797044844
dbSNP (classic)rs797044844
ClinGenrs797044844
ebirs797044844
HLIrs797044844
Exacrs797044844
Gnomadrs797044844
Varsomers797044844
LitVarrs797044844
Maprs797044844
PheGenIrs797044844
Biobankrs797044844
1000 genomesrs797044844
hgdprs797044844
ensemblrs797044844
geneviewrs797044844
scholarrs797044844
googlers797044844
pharmgkbrs797044844
gwascentralrs797044844
openSNPrs797044844
23andMers797044844
SNPshotrs797044844
SNPdbers797044844
MSV3drs797044844
GWAS Ctlgrs797044844
Max Magnitude0
ClinVar
Risk rs797044844(G;G)
Alt rs797044844(G;G)
Reference Rs797044844(A;A)
Significance Pathogenic
Disease Weaver syndrome
Variation info
Gene EZH2
CLNDBN Weaver syndrome
Reversed 1
HGVS NC_000007.13:g.148526846T>C
CLNSRC
CLNACC RCV000193211.1,