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: rs121918600
rs121918600
RYR2
5 0.882 0.080 1 237791441 missense variant C/T snv 0.850 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: rs121918597
rs121918597
RYR2
2 0.925 0.080 1 237634937 missense variant C/T snv 0.820 1.000 21 2001 2017
dbSNP: rs121918603
rs121918603
RYR2
3 0.882 0.080 1 237639068 missense variant C/T snv 0.820 1.000 21 2001 2019
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: 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: rs121918602
rs121918602
RYR2
3 0.925 0.120 1 237454396 missense variant T/C snv 0.800 1.000 21 2001 2016
dbSNP: rs121918605
rs121918605
RYR2
2 0.925 0.080 1 237784314 missense variant A/G snv 0.800 1.000 19 2001 2017
dbSNP: rs397516510
rs397516510
RYR2
1 1.000 0.080 1 237791480 missense variant G/A;C;T snv 0.800 1.000 14 2001 2016
dbSNP: rs794728746
rs794728746
RYR2
1 1.000 0.080 1 237638480 missense variant G/A;C snv 0.800 1.000 14 2001 2016
dbSNP: rs794728777
rs794728777
RYR2
1 1.000 0.080 1 237778726 missense variant G/A snv 0.800 1.000 14 2001 2016
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: rs121918606
rs121918606
RYR2
3 0.925 0.080 1 237819181 missense variant C/G snv 0.720 1.000 21 2001 2017
dbSNP: rs794728756
rs794728756
RYR2
1 1.000 0.080 1 237640983 missense variant G/A;C;T snv 0.720 1.000 3 2005 2011
dbSNP: rs121918599
rs121918599
RYR2
2 0.925 0.080 1 237784024 missense variant C/G snv 0.710 1.000 20 2001 2017
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: rs1415931588
rs1415931588
RYR2
2 1.000 0.080 1 237377426 missense variant A/T snv 0.710 1.000 3 2009 2012
dbSNP: rs1401116572
rs1401116572
RYR2
2 1.000 0.080 1 237441382 missense variant G/A snv 0.710 1.000 2 2009 2017
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: rs267607277
rs267607277
CALM1
6 0.807 0.120 14 90404386 missense variant A/G snv 0.710 1.000 1 2012 2012
dbSNP: rs730880187
rs730880187
RYR2
1 1.000 0.080 1 237492973 missense variant C/T snv 0.710 1.000 1 2009 2009
dbSNP: rs794728802
rs794728802
RYR2
1 1.000 0.080 1 237806236 missense variant A/C;G snv 0.710 1.000 1 2017 2017
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