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rs587784127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784127(A;A)
Make rs587784127(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177257002
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784127
dbSNP (classic)rs587784127
ClinGenrs587784127
ebirs587784127
HLIrs587784127
Exacrs587784127
Gnomadrs587784127
Varsomers587784127
LitVarrs587784127
Maprs587784127
PheGenIrs587784127
Biobankrs587784127
1000 genomesrs587784127
hgdprs587784127
ensemblrs587784127
geneviewrs587784127
scholarrs587784127
googlers587784127
pharmgkbrs587784127
gwascentralrs587784127
openSNPrs587784127
23andMers587784127
SNPshotrs587784127
SNPdbers587784127
MSV3drs587784127
GWAS Ctlgrs587784127
Max Magnitude0
ClinVar
Risk rs587784127(A;A)
Alt rs587784127(A;A)
Reference Rs587784127(G;G)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176684003G>A
CLNSRC
CLNACC RCV000146849.1,