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rs397515547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515547(A;A)
Make rs397515547(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position148809376
GeneEZH2
is asnp
is mentioned by
dbSNPrs397515547
ebirs397515547
HLIrs397515547
Exacrs397515547
Varsomers397515547
Maprs397515547
PheGenIrs397515547
hapmaprs397515547
1000 genomesrs397515547
hgdprs397515547
ensemblrs397515547
gopubmedrs397515547
geneviewrs397515547
scholarrs397515547
googlers397515547
pharmgkbrs397515547
gwascentralrs397515547
openSNPrs397515547
23andMers397515547
23andMe allrs397515547
SNP Nexus

SNPshotrs397515547
SNPdbers397515547
MSV3drs397515547
GWAS Ctlgrs397515547
Max Magnitude0
ClinVar
Risk rs397515547(A;A)
Alt rs397515547(A;A)
Reference rs397515547(G;G)
Significance Pathogenic
Disease Weaver syndrome
Variation info
Gene EZH2
CLNDBN Weaver syndrome
Reversed 1
HGVS NC_000007.13:g.148506468C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055900.1,