rs527236150, SCN4A

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.
Hypokalemic Periodic Paralysis, Type 2
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
15 0.882 0.160 17 63947082 missense variant C/T snv 0.800 1.000 12 1999 2014
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
30 0.882 0.160 17 63947082 missense variant C/T snv 0.700 1.000 3 2009 2014
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
27 0.882 0.160 17 63947082 missense variant C/T snv 0.700 1.000 3 2009 2014