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rs587784085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784085(-;-)
Make rs587784085(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210694
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784085
dbSNP (classic)rs587784085
ClinGenrs587784085
ebirs587784085
HLIrs587784085
Exacrs587784085
Gnomadrs587784085
Varsomers587784085
LitVarrs587784085
Maprs587784085
PheGenIrs587784085
Biobankrs587784085
1000 genomesrs587784085
hgdprs587784085
ensemblrs587784085
geneviewrs587784085
scholarrs587784085
googlers587784085
pharmgkbrs587784085
gwascentralrs587784085
openSNPrs587784085
23andMers587784085
SNPshotrs587784085
SNPdbers587784085
MSV3drs587784085
GWAS Ctlgrs587784085
Max Magnitude0
ClinVar
Risk rs587784085(-;-)
Alt rs587784085(-;-)
Reference Rs587784085(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176637695delC
CLNSRC
CLNACC RCV000146784.1,