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rs587784188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784188(C;T)
Make rs587784188(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292005
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784188
dbSNP (classic)rs587784188
ClinGenrs587784188
ebirs587784188
HLIrs587784188
Exacrs587784188
Gnomadrs587784188
Varsomers587784188
LitVarrs587784188
Maprs587784188
PheGenIrs587784188
Biobankrs587784188
1000 genomesrs587784188
hgdprs587784188
ensemblrs587784188
geneviewrs587784188
scholarrs587784188
googlers587784188
pharmgkbrs587784188
gwascentralrs587784188
openSNPrs587784188
23andMers587784188
SNPshotrs587784188
SNPdbers587784188
MSV3drs587784188
GWAS Ctlgrs587784188
Max Magnitude0
ClinVar
Risk rs587784188(T;T)
Alt rs587784188(T;T)
Reference Rs587784188(C;C)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719006C>T
CLNSRC
CLNACC RCV000146918.1,