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rs587784185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784185(A;A)
Make rs587784185(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177288926
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784185
dbSNP (classic)rs587784185
ClinGenrs587784185
ebirs587784185
HLIrs587784185
Exacrs587784185
Gnomadrs587784185
Varsomers587784185
LitVarrs587784185
Maprs587784185
PheGenIrs587784185
Biobankrs587784185
1000 genomesrs587784185
hgdprs587784185
ensemblrs587784185
geneviewrs587784185
scholarrs587784185
googlers587784185
pharmgkbrs587784185
gwascentralrs587784185
openSNPrs587784185
23andMers587784185
SNPshotrs587784185
SNPdbers587784185
MSV3drs587784185
GWAS Ctlgrs587784185
Max Magnitude0
ClinVar
Risk rs587784185(A;A)
Alt rs587784185(A;A)
Reference Rs587784185(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176715927G>A
CLNSRC
CLNACC RCV000146914.1,