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: rs146876145
rs146876145
RYR1
2 0.925 0.040 19 38586140 missense variant C/T snv 2.8E-05 2.1E-05 0.800 1.000 26 1991 2017
dbSNP: rs763112609
rs763112609
RYR1
1 1.000 0.040 19 38534774 missense variant C/G;T snv 4.0E-06; 1.2E-05 2.1E-05 0.800 1.000 24 1991 2017
dbSNP: rs118192177
rs118192177
RYR1
6 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.800 0
dbSNP: rs121918595
rs121918595
RYR1
3 0.925 0.040 19 38580094 missense variant C/T snv 4.0E-06 0.700 1.000 24 1991 2017
dbSNP: rs146306934
rs146306934
RYR1
1 1.000 0.040 19 38499706 missense variant G/A;T snv 5.0E-05 0.700 1.000 24 1991 2017
dbSNP: rs146429605
rs146429605
RYR1
1 1.000 0.040 19 38483293 missense variant A/G snv 9.0E-04 1.1E-03 0.700 1.000 24 1991 2017
dbSNP: rs193922810
rs193922810
RYR1
1 1.000 0.040 19 38499984 missense variant G/A;T snv 8.0E-06 0.700 1.000 24 1991 2017
dbSNP: rs121918592
rs121918592
RYR1
4 0.882 0.080 19 38448712 missense variant G/A;C snv 0.700 1.000 20 1991 2015
dbSNP: rs121918593
rs121918593
RYR1
3 0.925 0.040 19 38499993 missense variant G/A snv 3.2E-05 5.6E-05 0.700 1.000 20 1991 2015
dbSNP: rs121918594
rs121918594
RYR1
2 0.925 0.040 19 38500655 missense variant G/A;T snv 8.0E-06 0.700 1.000 20 1991 2015
dbSNP: rs137933390
rs137933390
RYR1
3 0.882 0.080 19 38475335 missense variant A/G snv 2.7E-03 2.8E-03 0.700 1.000 20 1991 2015
dbSNP: rs140152019
rs140152019
RYR1
1 1.000 0.040 19 38496488 missense variant G/A snv 4.0E-06 2.1E-05 0.700 1.000 20 1991 2015
dbSNP: rs144336148
rs144336148
RYR1
1 1.000 0.040 19 38455472 missense variant G/A snv 1.1E-04 2.8E-04 0.700 1.000 20 1991 2015
dbSNP: rs145573319
rs145573319
RYR1
1 1.000 0.040 19 38477816 missense variant A/G snv 7.1E-06 0.700 1.000 20 1991 2015
dbSNP: rs193922744
rs193922744
RYR1
1 1.000 0.040 19 38433867 missense variant T/G snv 0.700 1.000 20 1991 2015
dbSNP: rs193922747
rs193922747
RYR1
1 1.000 0.040 19 38440802 missense variant T/C snv 4.2E-06 7.0E-06 0.700 1.000 20 1991 2015
dbSNP: rs193922748
rs193922748
RYR1
2 0.925 0.120 19 38440829 missense variant C/T snv 4.1E-06 0.700 1.000 20 1991 2015
dbSNP: rs193922801
rs193922801
RYR1
1 1.000 0.040 19 38499650 missense variant A/G snv 1.4E-05 0.700 1.000 20 1991 2015
dbSNP: rs193922802
rs193922802
RYR1
3 0.925 0.040 19 38499655 missense variant G/A snv 0.700 1.000 20 1991 2015
dbSNP: rs193922809
rs193922809
RYR1
1 1.000 0.040 19 38499975 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 20 1991 2015
dbSNP: rs193922812
rs193922812
RYR1
1 1.000 0.040 19 38500003 missense variant C/T snv 0.700 1.000 20 1991 2015
dbSNP: rs193922816
rs193922816
RYR1
1 1.000 0.040 19 38500642 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 20 1991 2015
dbSNP: rs193922818
rs193922818
RYR1
1 1.000 0.040 19 38500899 missense variant G/A snv 0.700 1.000 20 1991 2015
dbSNP: rs193922840
rs193922840
RYR1
1 1.000 0.040 19 38543405 missense variant T/G snv 0.700 1.000 20 1991 2015
dbSNP: rs193922849
rs193922849
RYR1
1 1.000 0.040 19 38561236 missense variant C/A snv 2.4E-05 7.0E-06 0.700 1.000 20 1991 2015