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: rs1057518865
rs1057518865
SCN4A
17 63957443 missense variant C/T snv
CUI: C1868623
Disease: Handgrip myotonia
Handgrip myotonia 		0.700 0
dbSNP: rs1057518865
rs1057518865
SCN4A
17 63957443 missense variant C/T snv
CUI: C0027125
Disease: Myotonia
Myotonia 		0.700 0
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: 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: 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: rs121908545
rs121908545
SCN4A
0.851 0.160 17 63941939 missense variant C/A;G;T snv
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.700 1.000 1 2017 2017
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: rs121908546
rs121908546
SCN4A
0.882 0.120 17 63951866 missense variant G/A;C snv 6.1E-06
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.700 0
dbSNP: rs121908546
rs121908546
SCN4A
0.882 0.120 17 63951866 missense variant G/A;C snv 6.1E-06
CUI: C4016868
Disease: PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA 		0.700 0
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: rs121908547
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.710 1.000 0 1994 1994
dbSNP: rs121908547
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs121908547
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.700 0
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: rs121908547
rs121908547
SCN4A
0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.700 0
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: rs121908548
rs121908548
SCN4A
0.851 0.160 17 63941517 missense variant C/T snv
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.700 0
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: rs121908549
rs121908549
SCN4A
0.925 0.120 17 63945602 missense variant T/C snv
CUI: C4016869
Disease: MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE 		0.700 0
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: 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