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: rs199472676
rs199472676
KCNQ1
1.000 0.120 11 2445315 missense variant C/A;T snv 1.5E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 5 2011 2017