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rs587784140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784140(A;A)
Make rs587784140(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177267613
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784140
dbSNP (classic)rs587784140
ClinGenrs587784140
ebirs587784140
HLIrs587784140
Exacrs587784140
Gnomadrs587784140
Varsomers587784140
LitVarrs587784140
Maprs587784140
PheGenIrs587784140
Biobankrs587784140
1000 genomesrs587784140
hgdprs587784140
ensemblrs587784140
geneviewrs587784140
scholarrs587784140
googlers587784140
pharmgkbrs587784140
gwascentralrs587784140
openSNPrs587784140
23andMers587784140
SNPshotrs587784140
SNPdbers587784140
MSV3drs587784140
GWAS Ctlgrs587784140
Max Magnitude0
ClinVar
Risk rs587784140(A;A)
Alt rs587784140(A;A)
Reference Rs587784140(G;G)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176694614G>A
CLNSRC
CLNACC RCV000146866.1,