Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338958
rs80338958
SCN4A
0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.800 1.000 4 1991 2010
dbSNP: rs80338958
rs80338958
SCN4A
0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.700 1.000 16 1992 2009
dbSNP: rs80338958
rs80338958
SCN4A
0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.700 1.000 13 1994 2016