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: rs121912512
rs121912512
0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2017