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rs587784120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784120(A;G)
Make rs587784120(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177248178
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784120
dbSNP (classic)rs587784120
ClinGenrs587784120
ebirs587784120
HLIrs587784120
Exacrs587784120
Gnomadrs587784120
Varsomers587784120
LitVarrs587784120
Maprs587784120
PheGenIrs587784120
Biobankrs587784120
1000 genomesrs587784120
hgdprs587784120
ensemblrs587784120
geneviewrs587784120
scholarrs587784120
googlers587784120
pharmgkbrs587784120
gwascentralrs587784120
openSNPrs587784120
23andMers587784120
SNPshotrs587784120
SNPdbers587784120
MSV3drs587784120
GWAS Ctlgrs587784120
Max Magnitude0
ClinVar
Risk rs587784120(G;G)
Alt rs587784120(G;G)
Reference Rs587784120(A;A)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176675179A>G
CLNSRC
CLNACC RCV000146838.1,