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rs587784146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784146(A;C)
Make rs587784146(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269717
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784146
dbSNP (classic)rs587784146
ClinGenrs587784146
ebirs587784146
HLIrs587784146
Exacrs587784146
Gnomadrs587784146
Varsomers587784146
LitVarrs587784146
Maprs587784146
PheGenIrs587784146
Biobankrs587784146
1000 genomesrs587784146
hgdprs587784146
ensemblrs587784146
geneviewrs587784146
scholarrs587784146
googlers587784146
pharmgkbrs587784146
gwascentralrs587784146
openSNPrs587784146
23andMers587784146
SNPshotrs587784146
SNPdbers587784146
MSV3drs587784146
GWAS Ctlgrs587784146
Max Magnitude0
ClinVar
Risk rs587784146(C;C)
Alt rs587784146(C;C)
Reference Rs587784146(A;A)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696718A>C
CLNSRC
CLNACC RCV000146873.1,