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rs587784078

From SNPedia

Orientationplus
Geno Mag Summary
(AGAAC;AGAAC) 0 common in clinvar
Make rs587784078(-;-)
Make rs587784078(-;ACAGA)
Make rs587784078(ACAGA;ACAGA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210413
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784078
ebirs587784078
HLIrs587784078
Exacrs587784078
Varsomers587784078
Maprs587784078
PheGenIrs587784078
hapmaprs587784078
1000 genomesrs587784078
hgdprs587784078
ensemblrs587784078
gopubmedrs587784078
geneviewrs587784078
scholarrs587784078
googlers587784078
pharmgkbrs587784078
gwascentralrs587784078
openSNPrs587784078
23andMers587784078
23andMe allrs587784078
SNP Nexus

SNPshotrs587784078
SNPdbers587784078
MSV3drs587784078
GWAS Ctlgrs587784078
Max Magnitude0
ClinVar
Risk rs587784078(;)
Alt rs587784078(;)
Reference rs587784078(AGAAC;AGAAC)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637414_176637418delACAGA
CLNSRC
CLNACC RCV000146774.1,