Gene: KCNQ1OT1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
1 1.000 0.120 11 2661960 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 1997 2016
dbSNP: rs397508091
rs397508091
KCNQ1 ; KCNQ1OT1
2 0.925 0.120 11 2662080 stop gained C/T snv 0.700 0
dbSNP: rs794728558
rs794728558
KCNQ1 ; KCNQ1OT1
1 1.000 0.120 11 2662012 frameshift variant C/- delins 8.0E-06 0.700 0