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rs587784153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784153(-;-)
Make rs587784153(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177280654
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784153
dbSNP (classic)rs587784153
ClinGenrs587784153
ebirs587784153
HLIrs587784153
Exacrs587784153
Gnomadrs587784153
Varsomers587784153
LitVarrs587784153
Maprs587784153
PheGenIrs587784153
Biobankrs587784153
1000 genomesrs587784153
hgdprs587784153
ensemblrs587784153
geneviewrs587784153
scholarrs587784153
googlers587784153
pharmgkbrs587784153
gwascentralrs587784153
openSNPrs587784153
23andMers587784153
SNPshotrs587784153
SNPdbers587784153
MSV3drs587784153
GWAS Ctlgrs587784153
Max Magnitude0
ClinVar
Risk rs587784153(-;-)
Alt rs587784153(-;-)
Reference Rs587784153(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176707655delC
CLNSRC
CLNACC RCV000146881.1,