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rs587784187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784187(C;T)
Make rs587784187(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292002
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784187
dbSNP (classic)rs587784187
ClinGenrs587784187
ebirs587784187
HLIrs587784187
Exacrs587784187
Gnomadrs587784187
Varsomers587784187
LitVarrs587784187
Maprs587784187
PheGenIrs587784187
Biobankrs587784187
1000 genomesrs587784187
hgdprs587784187
ensemblrs587784187
geneviewrs587784187
scholarrs587784187
googlers587784187
pharmgkbrs587784187
gwascentralrs587784187
openSNPrs587784187
23andMers587784187
SNPshotrs587784187
SNPdbers587784187
MSV3drs587784187
GWAS Ctlgrs587784187
Max Magnitude0
ClinVar
Risk rs587784187(T;T)
Alt rs587784187(T;T)
Reference Rs587784187(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719003C>T
CLNSRC
CLNACC RCV000146917.1,