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rs587784147

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784147(C;T)
Make rs587784147(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269723
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784147
ebirs587784147
HLIrs587784147
Exacrs587784147
Varsomers587784147
Maprs587784147
PheGenIrs587784147
hapmaprs587784147
1000 genomesrs587784147
hgdprs587784147
ensemblrs587784147
gopubmedrs587784147
geneviewrs587784147
scholarrs587784147
googlers587784147
pharmgkbrs587784147
gwascentralrs587784147
openSNPrs587784147
23andMers587784147
23andMe allrs587784147
SNP Nexus

SNPshotrs587784147
SNPdbers587784147
MSV3drs587784147
GWAS Ctlgrs587784147
Max Magnitude0
ClinVar
Risk rs587784147(T;T)
Alt rs587784147(T;T)
Reference rs587784147(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696724C>T
CLNSRC
CLNACC RCV000146874.1,