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: rs199472737
rs199472737
KCNQ1
1.000 0.120 11 2572942 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017