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rs587784184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784184(-;-)
Make rs587784184(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177288832
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784184
dbSNP (classic)rs587784184
ClinGenrs587784184
ebirs587784184
HLIrs587784184
Exacrs587784184
Gnomadrs587784184
Varsomers587784184
LitVarrs587784184
Maprs587784184
PheGenIrs587784184
Biobankrs587784184
1000 genomesrs587784184
hgdprs587784184
ensemblrs587784184
geneviewrs587784184
scholarrs587784184
googlers587784184
pharmgkbrs587784184
gwascentralrs587784184
openSNPrs587784184
23andMers587784184
SNPshotrs587784184
SNPdbers587784184
MSV3drs587784184
GWAS Ctlgrs587784184
Max Magnitude0
ClinVar
Risk rs587784184(-;-)
Alt rs587784184(-;-)
Reference Rs587784184(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176715833delC
CLNSRC
CLNACC RCV000146913.1,