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rs587784131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784131(A;A)
Make rs587784131(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177257152
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784131
dbSNP (classic)rs587784131
ClinGenrs587784131
ebirs587784131
HLIrs587784131
Exacrs587784131
Gnomadrs587784131
Varsomers587784131
LitVarrs587784131
Maprs587784131
PheGenIrs587784131
Biobankrs587784131
1000 genomesrs587784131
hgdprs587784131
ensemblrs587784131
geneviewrs587784131
scholarrs587784131
googlers587784131
pharmgkbrs587784131
gwascentralrs587784131
openSNPrs587784131
23andMers587784131
SNPshotrs587784131
SNPdbers587784131
MSV3drs587784131
GWAS Ctlgrs587784131
Max Magnitude0
ClinVar
Risk rs587784131(A;A)
Alt rs587784131(A;A)
Reference Rs587784131(G;G)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176684153G>A
CLNSRC
CLNACC RCV000146857.1,