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rs587784117

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784117(C;T)
Make rs587784117(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177246716
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784117
ebirs587784117
HLIrs587784117
Exacrs587784117
Varsomers587784117
Maprs587784117
PheGenIrs587784117
hapmaprs587784117
1000 genomesrs587784117
hgdprs587784117
ensemblrs587784117
gopubmedrs587784117
geneviewrs587784117
scholarrs587784117
googlers587784117
pharmgkbrs587784117
gwascentralrs587784117
openSNPrs587784117
23andMers587784117
23andMe allrs587784117
SNP Nexus

SNPshotrs587784117
SNPdbers587784117
MSV3drs587784117
GWAS Ctlgrs587784117
Max Magnitude0
ClinVar
Risk rs587784117(T;T)
Alt rs587784117(T;T)
Reference rs587784117(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176673717C>T
CLNSRC
CLNACC RCV000146834.1,