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rs587784150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784150(A;G)
Make rs587784150(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177269769
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784150
dbSNP (classic)rs587784150
ClinGenrs587784150
ebirs587784150
HLIrs587784150
Exacrs587784150
Gnomadrs587784150
Varsomers587784150
LitVarrs587784150
Maprs587784150
PheGenIrs587784150
Biobankrs587784150
1000 genomesrs587784150
hgdprs587784150
ensemblrs587784150
geneviewrs587784150
scholarrs587784150
googlers587784150
pharmgkbrs587784150
gwascentralrs587784150
openSNPrs587784150
23andMers587784150
SNPshotrs587784150
SNPdbers587784150
MSV3drs587784150
GWAS Ctlgrs587784150
Max Magnitude0
ClinVar
Risk rs587784150(G;G)
Alt rs587784150(G;G)
Reference Rs587784150(A;A)
Significance Probable-Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176696770A>G
CLNSRC
CLNACC RCV000146877.1,