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rs137852717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852717(C;T)
Make rs137852717(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position137776636
GeneEHMT1
is asnp
is mentioned by
dbSNPrs137852717
dbSNP (classic)rs137852717
ClinGenrs137852717
ebirs137852717
HLIrs137852717
Exacrs137852717
Gnomadrs137852717
Varsomers137852717
LitVarrs137852717
Maprs137852717
PheGenIrs137852717
Biobankrs137852717
1000 genomesrs137852717
hgdprs137852717
ensemblrs137852717
geneviewrs137852717
scholarrs137852717
googlers137852717
pharmgkbrs137852717
gwascentralrs137852717
openSNPrs137852717
23andMers137852717
SNPshotrs137852717
SNPdbers137852717
MSV3drs137852717
GWAS Ctlgrs137852717
Max Magnitude0
ClinVar
Risk rs137852717(T;T)
Alt rs137852717(T;T)
Reference Rs137852717(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.140671088C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055958.1,