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rs587784110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784110(C;G)
Make rs587784110(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177238391
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784110
dbSNP (classic)rs587784110
ClinGenrs587784110
ebirs587784110
HLIrs587784110
Exacrs587784110
Gnomadrs587784110
Varsomers587784110
LitVarrs587784110
Maprs587784110
PheGenIrs587784110
Biobankrs587784110
1000 genomesrs587784110
hgdprs587784110
ensemblrs587784110
geneviewrs587784110
scholarrs587784110
googlers587784110
pharmgkbrs587784110
gwascentralrs587784110
openSNPrs587784110
23andMers587784110
SNPshotrs587784110
SNPdbers587784110
MSV3drs587784110
GWAS Ctlgrs587784110
Max Magnitude0
ClinVar
Risk rs587784110(G;G)
Alt rs587784110(G;G)
Reference Rs587784110(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176665392C>G
CLNSRC
CLNACC RCV000146825.1,