Disease: Hyperkalemic periodic paralysis ×
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: rs80338957
rs80338957 		0.776 0.160 17 63957427 missense variant G/A snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.850 1.000 15 1991 2019
dbSNP: rs80338962
rs80338962 		0.742 0.240 17 63941508 missense variant T/C snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.820 1.000 13 1991 2014
dbSNP: rs121908557
rs121908557 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 10 2004 2015
dbSNP: rs121908556
rs121908556 		0.925 0.160 17 63957515 missense variant G/A;C snv 1.2E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 2004 2012
dbSNP: rs80338958
rs80338958 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1991 2010
dbSNP: rs80338956
rs80338956 		0.882 0.160 17 63957460 missense variant A/G snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 7 1989 2017
dbSNP: rs80338792
rs80338792 		0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 19 1992 2017
dbSNP: rs121908547
rs121908547 		0.790 0.160 17 63943825 missense variant G/A snv 4.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 15 1992 2015
dbSNP: rs80338788
rs80338788 		0.851 0.160 17 63959269 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 15 2000 2015
dbSNP: rs80338785
rs80338785 		0.851 0.160 17 63959270 missense variant G/A;C;T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 14 2000 2015
dbSNP: rs121908545
rs121908545 		0.851 0.160 17 63941939 missense variant C/A;G;T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1992 2017
dbSNP: rs121908552
rs121908552 		0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1997 2015
dbSNP: rs121908544
rs121908544 		0.882 0.160 17 63941940 missense variant G/A;T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 1992 2011
dbSNP: rs121908548
rs121908548 		0.851 0.160 17 63941517 missense variant C/T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 1993 2015
dbSNP: rs80338784
rs80338784 		0.851 0.160 17 63959278 missense variant C/T snv 8.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 1999 2014
dbSNP: rs121908551
rs121908551 		0.882 0.160 17 63944708 missense variant C/T snv 7.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1995 2016
dbSNP: rs527236148
rs527236148 		0.790 0.160 17 63971201 missense variant G/A snv 7.0E-06
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2009 2018
dbSNP: rs527236149
rs527236149 		0.925 0.160 17 63947100 missense variant C/G;T snv 8.4E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2004 2010
dbSNP: rs80338789
rs80338789 		0.851 0.160 17 63947091 missense variant C/T snv 1.4E-05
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2006 2011
dbSNP: rs121908550
rs121908550 		0.925 0.160 17 63941984 missense variant A/C snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 1991 2009
dbSNP: rs527236150
rs527236150 		0.882 0.160 17 63947082 missense variant C/T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2009 2014
dbSNP: rs1567816549
rs1567816549 		0.925 0.160 17 63941982 missense variant A/G snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2013 2017
dbSNP: rs864622785
rs864622785 		0.925 0.160 17 63964600 missense variant A/C snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs763893717
rs763893717 		0.925 0.160 17 63941840 missense variant G/A;T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs80338955
rs80338955 		0.925 0.160 17 63957473 missense variant G/A;T snv
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2002 2002