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rs587784173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784173(C;T)
Make rs587784173(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177283790
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784173
dbSNP (classic)rs587784173
ClinGenrs587784173
ebirs587784173
HLIrs587784173
Exacrs587784173
Gnomadrs587784173
Varsomers587784173
LitVarrs587784173
Maprs587784173
PheGenIrs587784173
Biobankrs587784173
1000 genomesrs587784173
hgdprs587784173
ensemblrs587784173
geneviewrs587784173
scholarrs587784173
googlers587784173
pharmgkbrs587784173
gwascentralrs587784173
openSNPrs587784173
23andMers587784173
SNPshotrs587784173
SNPdbers587784173
MSV3drs587784173
GWAS Ctlgrs587784173
Max Magnitude0
ClinVar
Risk rs587784173(T;T)
Alt rs587784173(T;T)
Reference Rs587784173(C;C)
Significance Pathogenic
Disease Sotos syndrome 1 not provided
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 not provided
Reversed 0
HGVS NC_000005.9:g.176710791C>T
CLNSRC
CLNACC RCV000146902.1, RCV000255064.1,