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rs587784208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784208(A;G)
Make rs587784208(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177293925
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784208
dbSNP (classic)rs587784208
ClinGenrs587784208
ebirs587784208
HLIrs587784208
Exacrs587784208
Gnomadrs587784208
Varsomers587784208
LitVarrs587784208
Maprs587784208
PheGenIrs587784208
Biobankrs587784208
1000 genomesrs587784208
hgdprs587784208
ensemblrs587784208
geneviewrs587784208
scholarrs587784208
googlers587784208
pharmgkbrs587784208
gwascentralrs587784208
openSNPrs587784208
23andMers587784208
SNPshotrs587784208
SNPdbers587784208
MSV3drs587784208
GWAS Ctlgrs587784208
Max Magnitude0
ClinVar
Risk rs587784208(G;G)
Alt rs587784208(G;G)
Reference Rs587784208(A;A)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176720926A>G
CLNSRC
CLNACC RCV000146939.1,