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rs587784164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784164(-;-)
Make rs587784164(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177282475
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784164
dbSNP (classic)rs587784164
ClinGenrs587784164
ebirs587784164
HLIrs587784164
Exacrs587784164
Gnomadrs587784164
Varsomers587784164
LitVarrs587784164
Maprs587784164
PheGenIrs587784164
Biobankrs587784164
1000 genomesrs587784164
hgdprs587784164
ensemblrs587784164
geneviewrs587784164
scholarrs587784164
googlers587784164
pharmgkbrs587784164
gwascentralrs587784164
openSNPrs587784164
23andMers587784164
SNPshotrs587784164
SNPdbers587784164
MSV3drs587784164
GWAS Ctlgrs587784164
Max Magnitude0
ClinVar
Risk rs587784164(-;-)
Alt rs587784164(-;-)
Reference Rs587784164(T;T)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176709476delT
CLNSRC
CLNACC RCV000146893.1,