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rs587784095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784095(C;T)
Make rs587784095(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177211466
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784095
dbSNP (classic)rs587784095
ClinGenrs587784095
ebirs587784095
HLIrs587784095
Exacrs587784095
Gnomadrs587784095
Varsomers587784095
LitVarrs587784095
Maprs587784095
PheGenIrs587784095
Biobankrs587784095
1000 genomesrs587784095
hgdprs587784095
ensemblrs587784095
geneviewrs587784095
scholarrs587784095
googlers587784095
pharmgkbrs587784095
gwascentralrs587784095
openSNPrs587784095
23andMers587784095
SNPshotrs587784095
SNPdbers587784095
MSV3drs587784095
GWAS Ctlgrs587784095
Max Magnitude0
ClinVar
Risk rs587784095(T;T)
Alt rs587784095(T;T)
Reference Rs587784095(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638467C>T
CLNSRC
CLNACC RCV000146800.1,