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rs137852714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852714(C;T)
Make rs137852714(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position137743418
GeneEHMT1
is asnp
is mentioned by
dbSNPrs137852714
dbSNP (classic)rs137852714
ClinGenrs137852714
ebirs137852714
HLIrs137852714
Exacrs137852714
Gnomadrs137852714
Varsomers137852714
LitVarrs137852714
Maprs137852714
PheGenIrs137852714
Biobankrs137852714
1000 genomesrs137852714
hgdprs137852714
ensemblrs137852714
geneviewrs137852714
scholarrs137852714
googlers137852714
pharmgkbrs137852714
gwascentralrs137852714
openSNPrs137852714
23andMers137852714
SNPshotrs137852714
SNPdbers137852714
MSV3drs137852714
GWAS Ctlgrs137852714
Max Magnitude0
OMIM607001
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852714(T;T)
Alt rs137852714(T;T)
Reference Rs137852714(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.140637870C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003792.2,