ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
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: rs755287627
rs755287627
1.000 0.120 4 113353494 missense variant A/G snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs796052197
rs796052197
1.000 0.120 4 113354767 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs796052198
rs796052198
1.000 0.120 4 113356741 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1408198357
rs1408198357
1.000 0.120 4 113373391 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 1998 1998