Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784076(C;T)
Make rs587784076(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position177210209
GeneNSD1
is asnp
is mentioned by
dbSNPrs587784076
dbSNP (old)rs587784076
ClinGenrs587784076
ebirs587784076
HLIrs587784076
Exacrs587784076
Varsomers587784076
Maprs587784076
PheGenIrs587784076
Biobankrs587784076
1000 genomesrs587784076
hgdprs587784076
ensemblrs587784076
gopubmedrs587784076
geneviewrs587784076
scholarrs587784076
googlers587784076
pharmgkbrs587784076
gwascentralrs587784076
openSNPrs587784076
23andMers587784076
23andMe allrs587784076
SNP Nexus

SNPshotrs587784076
SNPdbers587784076
MSV3drs587784076
GWAS Ctlgrs587784076
Max Magnitude0
ClinVar
Risk rs587784076(T;T)
Alt rs587784076(T;T)
Reference Rs587784076(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.176637210C>T
CLNSRC
CLNACC RCV000146770.1, RCV000431725.1, RCV000458210.1,