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rs587784098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784098(C;T)
Make rs587784098(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177211613
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784098
dbSNP (classic)rs587784098
ClinGenrs587784098
ebirs587784098
HLIrs587784098
Exacrs587784098
Gnomadrs587784098
Varsomers587784098
LitVarrs587784098
Maprs587784098
PheGenIrs587784098
Biobankrs587784098
1000 genomesrs587784098
hgdprs587784098
ensemblrs587784098
geneviewrs587784098
scholarrs587784098
googlers587784098
pharmgkbrs587784098
gwascentralrs587784098
openSNPrs587784098
23andMers587784098
SNPshotrs587784098
SNPdbers587784098
MSV3drs587784098
GWAS Ctlgrs587784098
Max Magnitude0
ClinVar
Risk rs587784098(T;T)
Alt rs587784098(T;T)
Reference Rs587784098(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638614C>T
CLNSRC
CLNACC RCV000146805.1,