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rs587784099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784099(-;-)
Make rs587784099(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177211692
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784099
dbSNP (classic)rs587784099
ClinGenrs587784099
ebirs587784099
HLIrs587784099
Exacrs587784099
Gnomadrs587784099
Varsomers587784099
LitVarrs587784099
Maprs587784099
PheGenIrs587784099
Biobankrs587784099
1000 genomesrs587784099
hgdprs587784099
ensemblrs587784099
geneviewrs587784099
scholarrs587784099
googlers587784099
pharmgkbrs587784099
gwascentralrs587784099
openSNPrs587784099
23andMers587784099
SNPshotrs587784099
SNPdbers587784099
MSV3drs587784099
GWAS Ctlgrs587784099
Max Magnitude0
ClinVar
Risk rs587784099(-;-)
Alt rs587784099(-;-)
Reference Rs587784099(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176638693delC
CLNSRC
CLNACC RCV000146807.1,