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: rs397507556
rs397507556
CASQ2
1 1.000 0.080 1 115768445 stop gained G/A;T snv 4.0E-06; 1.6E-05 0.710 1.000 2 2002 2019
dbSNP: rs397515458
rs397515458
TRDN ; TRDN-AS1
3 0.925 0.080 6 123503899 stop gained G/A snv 3.1E-05 5.6E-05 0.700 1.000 2 2012 2015
dbSNP: rs1468290898
rs1468290898
TRDN
1 1.000 0.080 6 123516162 stop gained T/A snv 7.0E-06 0.700 0
dbSNP: rs1562267979
rs1562267979
TRDN ; LOC105377984
1 1.000 0.080 6 123337664 stop gained T/A snv 0.700 0
dbSNP: rs202219343
rs202219343
TRDN
1 1.000 0.080 6 123366174 stop gained G/A;C snv 1.3E-04; 5.2E-05 0.700 0
dbSNP: rs747836980
rs747836980
TRDN
1 1.000 0.080 6 123255098 stop gained A/C snv 2.9E-05 2.1E-05 0.700 0
dbSNP: rs190140598
rs190140598
RYR2
4 0.851 0.120 1 237445488 missense variant C/A;T snv 1.2E-05 0.800 1.000 22 2002 2017
dbSNP: rs794728753
rs794728753
RYR2
1 1.000 0.080 1 237640940 missense variant G/A;C snv 0.800 1.000 22 2001 2017
dbSNP: rs121918597
rs121918597
RYR2
2 0.925 0.080 1 237634937 missense variant C/T snv 0.820 1.000 21 2001 2017
dbSNP: rs121918598
rs121918598
RYR2
4 0.851 0.080 1 237648523 missense variant G/A;C snv 0.720 1.000 21 2001 2019
dbSNP: rs121918602
rs121918602
RYR2
3 0.925 0.120 1 237454396 missense variant T/C snv 0.800 1.000 21 2001 2016
dbSNP: rs121918603
rs121918603
RYR2
3 0.882 0.080 1 237639068 missense variant C/T snv 0.820 1.000 21 2001 2019
dbSNP: rs121918606
rs121918606
RYR2
3 0.925 0.080 1 237819181 missense variant C/G snv 0.720 1.000 21 2001 2017
dbSNP: rs121918599
rs121918599
RYR2
2 0.925 0.080 1 237784024 missense variant C/G snv 0.710 1.000 20 2001 2017
dbSNP: rs121918604
rs121918604
RYR2
3 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.810 1.000 20 2001 2018
dbSNP: rs121918600
rs121918600
RYR2
5 0.882 0.080 1 237791441 missense variant C/T snv 0.850 1.000 19 2001 2017
dbSNP: rs121918605
rs121918605
RYR2
2 0.925 0.080 1 237784314 missense variant A/G snv 0.800 1.000 19 2001 2017
dbSNP: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.830 1.000 19 2001 2018
dbSNP: rs764772142
rs764772142
RYR2
2 0.925 0.080 1 237377349 missense variant C/A;T snv 8.0E-06 0.710 1.000 15 2001 2019
dbSNP: rs1185619003
rs1185619003
RYR2
1 1.000 0.080 1 237830557 missense variant A/G snv 0.700 1.000 14 2001 2016
dbSNP: rs1202962809
rs1202962809
RYR2
1 1.000 0.080 1 237784184 missense variant A/C snv 0.700 1.000 14 2001 2016
dbSNP: rs1218096653
rs1218096653
RYR2
1 1.000 0.080 1 237828391 missense variant T/G snv 0.700 1.000 14 2001 2016
dbSNP: rs121918601
rs121918601
RYR2
2 0.925 0.120 1 237640938 missense variant A/T snv 0.700 1.000 14 2001 2016
dbSNP: rs1349176732
rs1349176732
RYR2
1 1.000 0.080 1 237445485 missense variant A/T snv 0.700 1.000 14 2001 2016
dbSNP: rs1349585791
rs1349585791
RYR2
1 1.000 0.080 1 237784148 missense variant G/A snv 0.700 1.000 14 2001 2016