rs267607040, SETBP1

N. diseases: 5
Disease: Schinzel-Giedion syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR