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rs587784089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784089(-;-)
Make rs587784089(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177211226
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784089
dbSNP (classic)rs587784089
ClinGenrs587784089
ebirs587784089
HLIrs587784089
Exacrs587784089
Gnomadrs587784089
Varsomers587784089
LitVarrs587784089
Maprs587784089
PheGenIrs587784089
Biobankrs587784089
1000 genomesrs587784089
hgdprs587784089
ensemblrs587784089
geneviewrs587784089
scholarrs587784089
googlers587784089
pharmgkbrs587784089
gwascentralrs587784089
openSNPrs587784089
23andMers587784089
SNPshotrs587784089
SNPdbers587784089
MSV3drs587784089
GWAS Ctlgrs587784089
Max Magnitude0
ClinVar
Risk rs587784089(-;-)
Alt rs587784089(-;-)
Reference Rs587784089(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638227delG
CLNSRC
CLNACC RCV000146792.1,