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rs137852718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852718(C;T)
Make rs137852718(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position137776684
GeneEHMT1
is asnp
is mentioned by
dbSNPrs137852718
dbSNP (classic)rs137852718
ClinGenrs137852718
ebirs137852718
HLIrs137852718
Exacrs137852718
Gnomadrs137852718
Varsomers137852718
LitVarrs137852718
Maprs137852718
PheGenIrs137852718
Biobankrs137852718
1000 genomesrs137852718
hgdprs137852718
ensemblrs137852718
geneviewrs137852718
scholarrs137852718
googlers137852718
pharmgkbrs137852718
gwascentralrs137852718
openSNPrs137852718
23andMers137852718
SNPshotrs137852718
SNPdbers137852718
MSV3drs137852718
GWAS Ctlgrs137852718
Max Magnitude0
ClinVar
Risk rs137852718(A;A) rs137852718(T;T)
Alt rs137852718(A;A) rs137852718(T;T)
Reference Rs137852718(C;C)
Significance Pathogenic
Disease Chromosome 9q deletion syndrome
Variation info
Gene EHMT1
CLNDBN Chromosome 9q deletion syndrome
Reversed 0
HGVS NC_000009.11:g.140671136C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055959.1,