rs1057523157, SETD2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LUSCAN-LUMISH SYNDROME
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
0.700 GeneticVariation CLINVAR
LUSCAN-LUMISH SYNDROME
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
0.700 CausalMutation CLINVAR
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
0.700 CausalMutation CLINVAR
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
0.700 CausalMutation CLINVAR