Source: CLINVAR

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: rs80338792
rs80338792
SCN4A
0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 19 1992 2017
dbSNP: rs80338792
rs80338792
SCN4A
0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 19 1992 2017
dbSNP: rs121908547
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 15 1992 2015
dbSNP: rs121908547
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 15 1992 2015
dbSNP: rs121908545
rs121908545
SCN4A
0.851 0.160 17 63941939 missense variant C/A;G;T snv
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 12 1992 2017
dbSNP: rs121908545
rs121908545
SCN4A
0.851 0.160 17 63941939 missense variant C/A;G;T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 12 1992 2017
dbSNP: rs80338957
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 8 1991 2015
dbSNP: rs80338957
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.850 1.000 8 1991 2019
dbSNP: rs80338962
rs80338962
SCN4A
0.742 0.240 17 63941508 missense variant T/C snv
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 8 1991 2014
dbSNP: rs80338962
rs80338962
SCN4A
0.742 0.240 17 63941508 missense variant T/C snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.820 1.000 8 1991 2014
dbSNP: rs121908544
rs121908544
SCN4A
0.882 0.160 17 63941940 missense variant G/A;T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 7 1992 2011
dbSNP: rs121908544
rs121908544
SCN4A
0.882 0.160 17 63941940 missense variant G/A;T snv
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 7 1992 2011
dbSNP: rs121908548
rs121908548
SCN4A
0.851 0.160 17 63941517 missense variant C/T snv
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 7 1993 2015
dbSNP: rs121908548
rs121908548
SCN4A
0.851 0.160 17 63941517 missense variant C/T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 7 1993 2015
dbSNP: rs867587467
rs867587467
SCN4A
17 63971173 missense variant G/A snv 1.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2000 2016
dbSNP: rs121908551
rs121908551
SCN4A
0.882 0.160 17 63944708 missense variant C/T snv 7.0E-06
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 6 1995 2016
dbSNP: rs121908551
rs121908551
SCN4A
0.882 0.160 17 63944708 missense variant C/T snv 7.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 6 1995 2016
dbSNP: rs527236148
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 4 2009 2018
dbSNP: rs527236148
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 4 2009 2018
dbSNP: rs80338789
rs80338789
SCN4A
0.851 0.160 17 63947091 missense variant C/T snv 1.4E-05
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 4 2006 2011
dbSNP: rs80338789
rs80338789
SCN4A
0.851 0.160 17 63947091 missense variant C/T snv 1.4E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 4 2006 2011
dbSNP: rs527236150
rs527236150
SCN4A
0.882 0.160 17 63947082 missense variant C/T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 3 2009 2014
dbSNP: rs527236150
rs527236150
SCN4A
0.882 0.160 17 63947082 missense variant C/T snv
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 3 2009 2014
dbSNP: rs1567816549
rs1567816549
SCN4A
0.925 0.160 17 63941982 missense variant A/G snv
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		0.700 1.000 2 2013 2017
dbSNP: rs1567816549
rs1567816549
SCN4A
0.925 0.160 17 63941982 missense variant A/G snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.700 1.000 2 2013 2017