Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs762814879
rs762814879
KCNQ1
0.925 0.120 11 2528019 splice donor variant G/A snv 8.0E-06 7.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 0
dbSNP: rs762814879
rs762814879
KCNQ1
0.925 0.120 11 2528019 splice donor variant G/A snv 8.0E-06 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0