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

rs587784086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs587784086(-;-)
Make rs587784086(-;GAAA)
Make rs587784086(GAAA;GAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210785
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784086
dbSNP (classic)rs587784086
ClinGenrs587784086
ebirs587784086
HLIrs587784086
Exacrs587784086
Gnomadrs587784086
Varsomers587784086
LitVarrs587784086
Maprs587784086
PheGenIrs587784086
Biobankrs587784086
1000 genomesrs587784086
hgdprs587784086
ensemblrs587784086
geneviewrs587784086
scholarrs587784086
googlers587784086
pharmgkbrs587784086
gwascentralrs587784086
openSNPrs587784086
23andMers587784086
SNPshotrs587784086
SNPdbers587784086
MSV3drs587784086
GWAS Ctlgrs587784086
Max Magnitude0
ClinVar
Risk rs587784086(-;-)
Alt rs587784086(-;-)
Reference Rs587784086(AAAG;AAAG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637786_176637789delGAAA
CLNSRC
CLNACC RCV000146786.1,