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rs587784190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784190(C;T)
Make rs587784190(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177292044
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784190
dbSNP (old)rs587784190
ClinGenrs587784190
ebirs587784190
HLIrs587784190
Exacrs587784190
Gnomadrs587784190
Varsomers587784190
Maprs587784190
PheGenIrs587784190
Biobankrs587784190
1000 genomesrs587784190
hgdprs587784190
ensemblrs587784190
gopubmedrs587784190
geneviewrs587784190
scholarrs587784190
googlers587784190
pharmgkbrs587784190
gwascentralrs587784190
openSNPrs587784190
23andMers587784190
23andMe allrs587784190
SNP Nexus

SNPshotrs587784190
SNPdbers587784190
MSV3drs587784190
GWAS Ctlgrs587784190
Max Magnitude0
ClinVar
Risk rs587784190(T;T)
Alt rs587784190(T;T)
Reference Rs587784190(C;C)
Significance Pathogenic
Disease Sotos syndrome 1 not provided Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1 not provided Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176719045C>T
CLNSRC
CLNACC RCV000146920.1, RCV000342078.1, RCV000468338.1,