ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: Long Qt Syndrome 4 ×
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: rs121912706
rs121912706 		0.851 0.200 4 113373306 missense variant C/T snv 1.0E-03 9.2E-04
CUI: C1833154
Disease: Long Qt Syndrome 4
Long Qt Syndrome 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs72544141
rs72544141 		0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04
CUI: C1833154
Disease: Long Qt Syndrome 4
Long Qt Syndrome 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0