rs104894358, KCNA1

N. diseases: 3
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 0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2010 2010
Contracture
CUI: C0009917
Disease: Contracture
12 0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06 0.010 1 2010 2010
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06 0.010 1 2010 2010