Disease: Hypokalemic Periodic Paralysis, Type 2 ×
Source: ALL
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: rs80338785
rs80338785 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 12 1999 2014
dbSNP: rs80338789
rs80338789 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 12 1999 2014
dbSNP: rs121908555
rs121908555 		0.925 0.160 17 63945608 missense variant G/A snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1999 2014
dbSNP: rs527236148
rs527236148 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1999 2014
dbSNP: rs527236150
rs527236150 		0.882 0.160 17 63947082 missense variant C/T snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1999 2014
dbSNP: rs80338784
rs80338784 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1999 2014
dbSNP: rs80338788
rs80338788 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1999 2014
dbSNP: rs1287863349
rs1287863349 		1.000 0.160 17 63947083 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1999 2014
dbSNP: rs527236149
rs527236149 		0.925 0.160 17 63947100 missense variant C/G;T snv 8.4E-05
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1999 2014
dbSNP: rs121908547
rs121908547 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908552
rs121908552 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338957
rs80338957 		0.776 0.160 17 63957427 missense variant G/A snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338962
rs80338962 		0.742 0.240 17 63941508 missense variant T/C snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886041805
rs886041805 		0.790 0.160 17 63941506 missense variant C/A;T snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908545
rs121908545 		0.851 0.160 17 63941939 missense variant C/A;G;T snv
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
Hypokalemic Periodic Paralysis, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019