Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401958
rs1135401958
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5
CUI: C4539851
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
G 0.800 CausalMutation CLINVAR
dbSNP: rs1135401958
rs1135401958
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5
CUI: C4539851
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
0.800 GeneticVariation UNIPROT