Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784125(-;-)
Make rs587784125(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177251833
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784125
dbSNP (classic)rs587784125
ClinGenrs587784125
ebirs587784125
HLIrs587784125
Exacrs587784125
Gnomadrs587784125
Varsomers587784125
LitVarrs587784125
Maprs587784125
PheGenIrs587784125
Biobankrs587784125
1000 genomesrs587784125
hgdprs587784125
ensemblrs587784125
geneviewrs587784125
scholarrs587784125
googlers587784125
pharmgkbrs587784125
gwascentralrs587784125
openSNPrs587784125
23andMers587784125
SNPshotrs587784125
SNPdbers587784125
MSV3drs587784125
GWAS Ctlgrs587784125
Max Magnitude0
ClinVar
Risk rs587784125(-;-)
Alt rs587784125(-;-)
Reference Rs587784125(T;T)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176678834delT
CLNSRC
CLNACC RCV000146847.1,