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: rs397508111
rs397508111
KCNQ1
0.882 0.120 11 2528023 splice region variant G/A;C snv 1.2E-05
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.700 1.000 4 1999 2012
dbSNP: rs397508111
rs397508111
KCNQ1
0.882 0.120 11 2528023 splice region variant G/A;C snv 1.2E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 2 1999 2013
dbSNP: rs397508111
rs397508111
KCNQ1
0.882 0.120 11 2528023 splice region variant G/A;C snv 1.2E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 0