Disease: Familial 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: rs41280102
rs41280102 		0.925 0.200 17 63951560 missense variant C/G snv 9.9E-03 9.8E-03
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80338958
rs80338958 		0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs80338962
rs80338962 		0.742 0.240 17 63941508 missense variant T/C snv
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial 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