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rs587784183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784183(G;T)
Make rs587784183(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177288824
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784183
dbSNP (classic)rs587784183
ClinGenrs587784183
ebirs587784183
HLIrs587784183
Exacrs587784183
Gnomadrs587784183
Varsomers587784183
LitVarrs587784183
Maprs587784183
PheGenIrs587784183
Biobankrs587784183
1000 genomesrs587784183
hgdprs587784183
ensemblrs587784183
geneviewrs587784183
scholarrs587784183
googlers587784183
pharmgkbrs587784183
gwascentralrs587784183
openSNPrs587784183
23andMers587784183
SNPshotrs587784183
SNPdbers587784183
MSV3drs587784183
GWAS Ctlgrs587784183
Max Magnitude0
ClinVar
Risk rs587784183(T;T)
Alt rs587784183(T;T)
Reference Rs587784183(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176715825G>T
CLNSRC
CLNACC RCV000146912.1,