Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607042
rs267607042
SETBP1
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468

2010