rs28933383, KCNA1

N. diseases: 7
Source: BEFREE ×
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.
Episodic ataxia type 1
CUI: C1719788
Disease: Episodic ataxia type 1
3 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.810 0.938 1 1994 2010
Ataxia
CUI: C0004134
Disease: Ataxia
52 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
64 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Contracture
CUI: C0009917
Disease: Contracture
12 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1 2010 2010
Epilepsy
CUI: C0014544
Disease: Epilepsy
250 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1 2010 2010
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
15 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Spasm
CUI: C0037763
Disease: Spasm
1 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016