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rs137852715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGACGGCACCAGG;AGACGGCACCAGG) 0 common in clinvar
(GGCACCAGGAGAC;GGCACCAGGAGAC) 0 common in clinvar
(I;I) 0 common genotype
Make rs137852715(-;-)
Make rs137852715(-;GGCACCAGGAGAC)
ReferenceGRCh38 38.1/141
Chromosome9
Position137757923
GeneEHMT1
is asnp
is mentioned by
dbSNPrs137852715
dbSNP (classic)rs137852715
ClinGenrs137852715
ebirs137852715
HLIrs137852715
Exacrs137852715
Gnomadrs137852715
Varsomers137852715
LitVarrs137852715
Maprs137852715
PheGenIrs137852715
Biobankrs137852715
1000 genomesrs137852715
hgdprs137852715
ensemblrs137852715
geneviewrs137852715
scholarrs137852715
googlers137852715
pharmgkbrs137852715
gwascentralrs137852715
openSNPrs137852715
23andMers137852715
SNPshotrs137852715
SNPdbers137852715
MSV3drs137852715
GWAS Ctlgrs137852715
Max Magnitude0
OMIM607001
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852715(-;-)
Alt rs137852715(-;-)
Reference Rs137852715(AGACGGCACCAGG;AGACGGCACCAGG)
Significance Pathogenic
Disease Chromosome 9q deletion syndrome
Variation info
Gene EHMT1
CLNDBN Chromosome 9q deletion syndrome
Reversed 0
HGVS NC_000009.11:g.140652375_140652387delGGCACCAGGAGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003790.4,