Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338777
rs80338777
0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.750 1.000 5 1996 2014
dbSNP: rs80338778
rs80338778
0.925 0.160 1 201077916 missense variant G/A;C snv 8.0E-06
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.740 1.000 4 2005 2015
dbSNP: rs28930068
rs28930068
0.925 0.160 1 201053538 missense variant C/T snv 4.0E-06
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 1995 2007
dbSNP: rs28930069
rs28930069
0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 2005 2007
dbSNP: rs80338779
rs80338779
0.925 0.160 1 201066283 missense variant C/A snv
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs2297902
rs2297902
0.925 0.160 1 201065943 missense variant G/A;C snv 3.8E-02
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267606698
rs267606698
0.925 0.160 1 201066917 missense variant A/T snv
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs990388342
rs990388342
0.882 0.160 1 201083222 missense variant T/C snv
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015