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rs587784220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784220(-;-)
Make rs587784220(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177295404
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784220
dbSNP (classic)rs587784220
ClinGenrs587784220
ebirs587784220
HLIrs587784220
Exacrs587784220
Gnomadrs587784220
Varsomers587784220
LitVarrs587784220
Maprs587784220
PheGenIrs587784220
Biobankrs587784220
1000 genomesrs587784220
hgdprs587784220
ensemblrs587784220
geneviewrs587784220
scholarrs587784220
googlers587784220
pharmgkbrs587784220
gwascentralrs587784220
openSNPrs587784220
23andMers587784220
SNPshotrs587784220
SNPdbers587784220
MSV3drs587784220
GWAS Ctlgrs587784220
Max Magnitude0
ClinVar
Risk rs587784220(-;-)
Alt rs587784220(-;-)
Reference Rs587784220(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176722405delC
CLNSRC
CLNACC RCV000146957.1,