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rs587784189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587784189(-;-)
Make rs587784189(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292006
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784189
dbSNP (classic)rs587784189
ClinGenrs587784189
ebirs587784189
HLIrs587784189
Exacrs587784189
Gnomadrs587784189
Varsomers587784189
LitVarrs587784189
Maprs587784189
PheGenIrs587784189
Biobankrs587784189
1000 genomesrs587784189
hgdprs587784189
ensemblrs587784189
geneviewrs587784189
scholarrs587784189
googlers587784189
pharmgkbrs587784189
gwascentralrs587784189
openSNPrs587784189
23andMers587784189
SNPshotrs587784189
SNPdbers587784189
MSV3drs587784189
GWAS Ctlgrs587784189
Max Magnitude0
ClinVar
Risk rs587784189(-;-)
Alt rs587784189(-;-)
Reference Rs587784189(AG;AG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719007_176719008delAG
CLNSRC
CLNACC RCV000146919.1,