rs786205232, KCNA2

N. diseases: 5
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.
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
Tremor
CUI: C0040822
Disease: Tremor
52 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
11 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.800 1.000 3 2015 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017