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rs587784171

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784171(C;C)
Make rs587784171(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177282561
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784171
ebirs587784171
HLIrs587784171
Exacrs587784171
Varsomers587784171
Maprs587784171
PheGenIrs587784171
hapmaprs587784171
1000 genomesrs587784171
hgdprs587784171
ensemblrs587784171
gopubmedrs587784171
geneviewrs587784171
scholarrs587784171
googlers587784171
pharmgkbrs587784171
gwascentralrs587784171
openSNPrs587784171
23andMers587784171
23andMe allrs587784171
SNP Nexus

SNPshotrs587784171
SNPdbers587784171
MSV3drs587784171
GWAS Ctlgrs587784171
Max Magnitude0
ClinVar
Risk rs587784171(C;C)
Alt rs587784171(C;C)
Reference rs587784171(T;T)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176709562T>C
CLNSRC
CLNACC RCV000146900.1,