rs121908545, SCN4A

N. diseases: 5
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.
Paramyotonia Congenita (disorder)
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
26 0.851 0.160 17 63941939 missense variant C/A;G;T snv 0.820 1.000 18 1992 2019
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
30 0.851 0.160 17 63941939 missense variant C/A;G;T snv 0.700 1.000 12 1992 2017
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
27 0.851 0.160 17 63941939 missense variant C/A;G;T snv 0.700 1.000 12 1992 2017
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 0.851 0.160 17 63941939 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Hypokalemic Periodic Paralysis, Type 2
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
15 0.851 0.160 17 63941939 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019