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rs587784077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784077(C;T)
Make rs587784077(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210230
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784077
dbSNP (classic)rs587784077
ClinGenrs587784077
ebirs587784077
HLIrs587784077
Exacrs587784077
Gnomadrs587784077
Varsomers587784077
LitVarrs587784077
Maprs587784077
PheGenIrs587784077
Biobankrs587784077
1000 genomesrs587784077
hgdprs587784077
ensemblrs587784077
geneviewrs587784077
scholarrs587784077
googlers587784077
pharmgkbrs587784077
gwascentralrs587784077
openSNPrs587784077
23andMers587784077
SNPshotrs587784077
SNPdbers587784077
MSV3drs587784077
GWAS Ctlgrs587784077
Max Magnitude0
ClinVar
Risk rs587784077(T;T)
Alt rs587784077(T;T)
Reference Rs587784077(C;C)
Significance Pathogenic
Disease Sotos syndrome 1 not provided
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 not provided
Reversed 0
HGVS NC_000005.9:g.176637231C>T
CLNSRC
CLNACC RCV000146772.1, RCV000294223.1,