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: rs193922623
rs193922623
RYR2
1 1.000 0.080 1 237500774 missense variant G/A snv 2.2E-04 1.5E-04 0.700 0
dbSNP: rs199473119
rs199473119
SCN5A
7 0.790 0.120 3 38604035 missense variant G/A;T snv 8.4E-06; 4.2E-06 0.700 0
dbSNP: rs587782933
rs587782933
CACNA1C
5 0.827 0.200 12 2504526 missense variant G/A snv 0.700 0
dbSNP: rs121434420
rs121434420
PKP2
5 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs768147116
rs768147116
RYR2
1 1.000 0.080 1 237627864 missense variant T/C snv 8.0E-06 0.010 1.000 1 2014 2014