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rs587784210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784210(A;A)
Make rs587784210(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177293972
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784210
dbSNP (classic)rs587784210
ClinGenrs587784210
ebirs587784210
HLIrs587784210
Exacrs587784210
Gnomadrs587784210
Varsomers587784210
LitVarrs587784210
Maprs587784210
PheGenIrs587784210
Biobankrs587784210
1000 genomesrs587784210
hgdprs587784210
ensemblrs587784210
geneviewrs587784210
scholarrs587784210
googlers587784210
pharmgkbrs587784210
gwascentralrs587784210
openSNPrs587784210
23andMers587784210
SNPshotrs587784210
SNPdbers587784210
MSV3drs587784210
GWAS Ctlgrs587784210
Max Magnitude0
ClinVar
Risk rs587784210(A;A)
Alt rs587784210(A;A)
Reference Rs587784210(T;T)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720973T>A
CLNSRC
CLNACC RCV000146941.1,