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rs587784149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784149(A;A)
Make rs587784149(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269730
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784149
dbSNP (classic)rs587784149
ClinGenrs587784149
ebirs587784149
HLIrs587784149
Exacrs587784149
Gnomadrs587784149
Varsomers587784149
LitVarrs587784149
Maprs587784149
PheGenIrs587784149
Biobankrs587784149
1000 genomesrs587784149
hgdprs587784149
ensemblrs587784149
geneviewrs587784149
scholarrs587784149
googlers587784149
pharmgkbrs587784149
gwascentralrs587784149
openSNPrs587784149
23andMers587784149
SNPshotrs587784149
SNPdbers587784149
MSV3drs587784149
GWAS Ctlgrs587784149
Max Magnitude0
ClinVar
Risk rs587784149(A;A)
Alt rs587784149(A;A)
Reference Rs587784149(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696731G>A
CLNSRC
CLNACC RCV000146876.1,