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rs587784144

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784144(C;C)
Make rs587784144(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269688
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784144
ebirs587784144
HLIrs587784144
Exacrs587784144
Varsomers587784144
Maprs587784144
PheGenIrs587784144
hapmaprs587784144
1000 genomesrs587784144
hgdprs587784144
ensemblrs587784144
gopubmedrs587784144
geneviewrs587784144
scholarrs587784144
googlers587784144
pharmgkbrs587784144
gwascentralrs587784144
openSNPrs587784144
23andMers587784144
23andMe allrs587784144
SNP Nexus

SNPshotrs587784144
SNPdbers587784144
MSV3drs587784144
GWAS Ctlgrs587784144
Max Magnitude0
ClinVar
Risk rs587784144(C;C)
Alt rs587784144(C;C)
Reference rs587784144(T;T)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696689T>C
CLNSRC
CLNACC RCV000146871.1,