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: 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: rs121908544
rs121908544
SCN4A
0.882 0.160 17 63941940 missense variant G/A;T snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.850 1.000 0 1992 2010
dbSNP: rs80338957
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.840 1.000 0 1992 2019
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: rs121908545
rs121908545
SCN4A
0.851 0.160 17 63941939 missense variant C/A;G;T snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.820 1.000 0 1992 2019
dbSNP: rs121908547
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.820 1.000 0 1992 2011
dbSNP: rs80338792
rs80338792
SCN4A
0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.820 1.000 0 1994 2016
dbSNP: rs121908548
rs121908548
SCN4A
0.851 0.160 17 63941517 missense variant C/T snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.810 1.000 0 1992 2010
dbSNP: rs121908551
rs121908551
SCN4A
0.882 0.160 17 63944708 missense variant C/T snv 7.0E-06
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.810 1.000 0 1992 2009
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.810 0.933 0 1994 2016
dbSNP: rs121908554
rs121908554
SCN4A
1.000 0.080 17 63941915 missense variant C/T snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.810 1.000 0 1992 2010
dbSNP: rs80338785
rs80338785
SCN4A ; LOC105371858
0.851 0.160 17 63959270 missense variant G/A;C;T snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.810 1.000 0 1999 2014
dbSNP: rs80338789
rs80338789
SCN4A
0.851 0.160 17 63947091 missense variant C/T snv 1.4E-05
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.810 1.000 0 1999 2014
dbSNP: rs80338792
rs80338792
SCN4A
0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.810 1.000 0 1992 2010
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.800 1.000 8 2004 2015
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.925 0.160 17 63957515 missense variant G/A;C snv 1.2E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		0.800 1.000 3 2004 2012
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 1 1991 2010
dbSNP: rs121908550
rs121908550
SCN4A
0.925 0.160 17 63941984 missense variant A/C snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 1.000 0 1992 2010
dbSNP: rs121908553
rs121908553
SCN4A
0.925 0.080 17 63941957 missense variant A/T snv
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.800 1.000 0 2003 2016
dbSNP: rs121908555
rs121908555
SCN4A
0.925 0.160 17 63945608 missense variant G/A snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.800 1.000 0 1999 2014
dbSNP: rs527236148
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.800 1.000 0 1999 2014
dbSNP: rs527236150
rs527236150
SCN4A
0.882 0.160 17 63947082 missense variant C/T snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.800 1.000 0 1999 2014
dbSNP: rs80338784
rs80338784
SCN4A ; LOC105371858
0.851 0.160 17 63959278 missense variant C/T snv 8.0E-06
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.800 1.000 0 1999 2014
dbSNP: rs80338788
rs80338788
SCN4A ; LOC105371858
0.851 0.160 17 63959269 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.800 1.000 0 1999 2014
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.882 0.160 17 63957460 missense variant A/G snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.800 1.000 0 1992 2010