rs80338778, CACNA1S

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.
Hypokalemic periodic paralysis
CUI: C0238358
Disease: Hypokalemic periodic paralysis
19 0.925 0.160 1 201077916 missense variant G/A;C snv 8.0E-06 0.740 1.000 4 2005 2015
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
24 0.925 0.160 1 201077916 missense variant G/A;C snv 8.0E-06 0.710 1.000 7 1994 2010