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rs587784114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784114(-;-)
Make rs587784114(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177244268
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784114
dbSNP (classic)rs587784114
ClinGenrs587784114
ebirs587784114
HLIrs587784114
Exacrs587784114
Gnomadrs587784114
Varsomers587784114
LitVarrs587784114
Maprs587784114
PheGenIrs587784114
Biobankrs587784114
1000 genomesrs587784114
hgdprs587784114
ensemblrs587784114
geneviewrs587784114
scholarrs587784114
googlers587784114
pharmgkbrs587784114
gwascentralrs587784114
openSNPrs587784114
23andMers587784114
SNPshotrs587784114
SNPdbers587784114
MSV3drs587784114
GWAS Ctlgrs587784114
Max Magnitude0
ClinVar
Risk rs587784114(-;-)
Alt rs587784114(-;-)
Reference Rs587784114(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176671269delG
CLNSRC
CLNACC RCV000146830.1,