rs28933381, KCNA1

N. diseases: 4
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.
Episodic ataxia type 1
CUI: C1719788
Disease: Episodic ataxia type 1
15 0.925 0.080 12 4912102 missense variant G/C snv 0.700 1.000 4 2000 2010
Myokymia 1
CUI: C2674766
Disease: Myokymia 1
3 0.925 0.080 12 4912102 missense variant G/C snv 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.925 0.080 12 4912102 missense variant G/C snv 0.010 1 2013 2013
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.925 0.080 12 4912102 missense variant G/C snv 0.010 1 2013 2013