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rs587784133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784133(A;T)
Make rs587784133(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177259987
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784133
dbSNP (classic)rs587784133
ClinGenrs587784133
ebirs587784133
HLIrs587784133
Exacrs587784133
Gnomadrs587784133
Varsomers587784133
LitVarrs587784133
Maprs587784133
PheGenIrs587784133
Biobankrs587784133
1000 genomesrs587784133
hgdprs587784133
ensemblrs587784133
geneviewrs587784133
scholarrs587784133
googlers587784133
pharmgkbrs587784133
gwascentralrs587784133
openSNPrs587784133
23andMers587784133
SNPshotrs587784133
SNPdbers587784133
MSV3drs587784133
GWAS Ctlgrs587784133
Max Magnitude0
ClinVar
Risk rs587784133(T;T)
Alt rs587784133(T;T)
Reference Rs587784133(A;A)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176686988A>T
CLNSRC
CLNACC RCV000146859.1,