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rs587784151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784151(C;T)
Make rs587784151(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177273728
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784151
dbSNP (classic)rs587784151
ClinGenrs587784151
ebirs587784151
HLIrs587784151
Exacrs587784151
Gnomadrs587784151
Varsomers587784151
LitVarrs587784151
Maprs587784151
PheGenIrs587784151
Biobankrs587784151
1000 genomesrs587784151
hgdprs587784151
ensemblrs587784151
geneviewrs587784151
scholarrs587784151
googlers587784151
pharmgkbrs587784151
gwascentralrs587784151
openSNPrs587784151
23andMers587784151
SNPshotrs587784151
SNPdbers587784151
MSV3drs587784151
GWAS Ctlgrs587784151
Max Magnitude0
ClinVar
Risk rs587784151(T;T)
Alt rs587784151(T;T)
Reference Rs587784151(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176700729C>T
CLNSRC
CLNACC RCV000146879.1,