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: 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: 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: 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: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.700 0
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: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C0030196
Disease: Pain in limb
Pain in limb 		0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		0.700 0
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C4022169
Disease: EMG: myotonic discharges
EMG: myotonic discharges 		0.700 0
dbSNP: rs121908559
rs121908559
SCN4A
0.925 0.120 17 63941854 missense variant C/T snv 4.0E-06
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.700 0
dbSNP: rs121908560
rs121908560
SCN4A
1.000 0.120 17 63944694 missense variant G/T snv
CUI: C1858891
Disease: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS 		0.700 0
dbSNP: rs121908561
rs121908561
SCN4A
0.925 0.120 17 63972197 missense variant T/C snv
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.700 0
dbSNP: rs527236148
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.700 0
dbSNP: rs527236148
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		0.700 0
dbSNP: rs527236148
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		0.700 0
dbSNP: rs527236148
rs527236148
SCN4A
0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.700 0
dbSNP: rs80338789
rs80338789
SCN4A
0.851 0.160 17 63947091 missense variant C/T snv 1.4E-05
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.700 0