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: rs120074195
rs120074195
0.925 0.120 11 2572984 missense variant G/A;C snv
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199472687
rs199472687
0.827 0.120 11 2527962 missense variant G/A snv
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017