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rs587784111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784111(G;G)
Make rs587784111(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177238509
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784111
dbSNP (classic)rs587784111
ClinGenrs587784111
ebirs587784111
HLIrs587784111
Exacrs587784111
Gnomadrs587784111
Varsomers587784111
LitVarrs587784111
Maprs587784111
PheGenIrs587784111
Biobankrs587784111
1000 genomesrs587784111
hgdprs587784111
ensemblrs587784111
geneviewrs587784111
scholarrs587784111
googlers587784111
pharmgkbrs587784111
gwascentralrs587784111
openSNPrs587784111
23andMers587784111
SNPshotrs587784111
SNPdbers587784111
MSV3drs587784111
GWAS Ctlgrs587784111
Max Magnitude0
ClinVar
Risk rs587784111(G;G)
Alt rs587784111(G;G)
Reference Rs587784111(T;T)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176665510T>G
CLNSRC
CLNACC RCV000146826.1,