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: rs199473446
rs199473446
KCNQ1
1.000 0.120 11 2445295 missense variant C/A;T snv 5.0E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 20 1996 2015