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rs587784193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784193(A;T)
Make rs587784193(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292072
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784193
dbSNP (old)rs587784193
ClinGenrs587784193
ebirs587784193
HLIrs587784193
Exacrs587784193
Varsomers587784193
Maprs587784193
PheGenIrs587784193
Biobankrs587784193
1000 genomesrs587784193
hgdprs587784193
ensemblrs587784193
gopubmedrs587784193
geneviewrs587784193
scholarrs587784193
googlers587784193
pharmgkbrs587784193
gwascentralrs587784193
openSNPrs587784193
23andMers587784193
23andMe allrs587784193
SNP Nexus

SNPshotrs587784193
SNPdbers587784193
MSV3drs587784193
GWAS Ctlgrs587784193
Max Magnitude0
ClinVar
Risk rs587784193(T;T)
Alt rs587784193(T;T)
Reference Rs587784193(A;A)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719073A>T
CLNSRC
CLNACC RCV000146923.1,