Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568925507
rs1568925507
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1853743
Disease:
Muscular hypotonia of the trunk
TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC 0.700 CausalMutation CLINVAR