rs797044938, KCNQ2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 20 63442529 missense variant C/A;G snv 0.700 1.000 29 1980 2017
Seizures
CUI: C0036572
Disease: Seizures
553 20 63442529 missense variant C/A;G snv 0.700 1.000 1 2016 2016