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rs587784156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784156(A;G)
Make rs587784156(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177280740
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784156
dbSNP (classic)rs587784156
ClinGenrs587784156
ebirs587784156
HLIrs587784156
Exacrs587784156
Gnomadrs587784156
Varsomers587784156
LitVarrs587784156
Maprs587784156
PheGenIrs587784156
Biobankrs587784156
1000 genomesrs587784156
hgdprs587784156
ensemblrs587784156
geneviewrs587784156
scholarrs587784156
googlers587784156
pharmgkbrs587784156
gwascentralrs587784156
openSNPrs587784156
23andMers587784156
SNPshotrs587784156
SNPdbers587784156
MSV3drs587784156
GWAS Ctlgrs587784156
Max Magnitude0
ClinVar
Risk rs587784156(G;G)
Alt rs587784156(G;G)
Reference Rs587784156(A;A)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176707741A>G
CLNSRC
CLNACC RCV000146885.1,