rs80338960, SCN4A

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.
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
30 0.925 0.160 17 63943006 missense variant T/C snv 4.0E-06 0.700 1.000 1 2001 2001
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
27 0.925 0.160 17 63943006 missense variant T/C snv 4.0E-06 0.700 1.000 1 2001 2001