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: rs118192162
rs118192162
RYR1
6 0.851 0.120 19 38455359 missense variant A/C;G snv 0.060 1.000 6 2005 2019
dbSNP: rs137933390
rs137933390
RYR1
3 0.882 0.080 19 38475335 missense variant A/G snv 2.7E-03 2.8E-03 0.020 1.000 2 2013 2015
dbSNP: rs118192167
rs118192167
RYR1
2 0.925 0.120 19 38580004 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs138029585
rs138029585
CACNB1
1 1.000 0.040 17 39186877 missense variant A/G snv 7.7E-04 8.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs147213895
rs147213895
RYR1
3 0.882 0.200 19 38499241 missense variant A/G snv 1.0E-03 1.0E-03 0.010 1.000 1 2004 2004
dbSNP: rs193922790
rs193922790
RYR1
2 1.000 0.040 19 38494621 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1800559
rs1800559
CACNA1S
3 0.925 0.080 1 201060815 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs193922762
rs193922762
RYR1
2 0.925 0.040 19 38448673 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs193922878
rs193922878
RYR1
2 0.925 0.040 19 38580370 missense variant C/G snv 0.020 1.000 2 2002 2008
dbSNP: rs1309417886
rs1309417886
RYR1
2 0.925 0.120 19 38517668 missense variant C/G snv 2.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs140291094
rs140291094
STAC3
11 0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs118192172
rs118192172
RYR1
5 0.851 0.120 19 38457545 missense variant C/G;T snv 8.7E-05 1.1E-04 0.090 0.889 9 1991 2001
dbSNP: rs193922764
rs193922764
RYR1
2 0.925 0.040 19 38451842 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 9 2002 2015
dbSNP: rs118192177
rs118192177
RYR1
6 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.720 1.000 8 1998 2015
dbSNP: rs118192178
rs118192178
RYR1
4 0.882 0.120 19 38500898 missense variant C/G;T snv 0.020 1.000 2 2009 2015
dbSNP: rs118204421
rs118204421
RYR1
1 1.000 0.040 19 38519237 missense variant C/G;T snv 6.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs186983396
rs186983396
RYR1
1 1.000 0.040 19 38442434 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs193922855
rs193922855
RYR1
1 1.000 0.040 19 38565218 missense variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs118192161
rs118192161
RYR1
5 0.882 0.120 19 38444211 missense variant C/T snv 0.060 1.000 6 1995 2011
dbSNP: rs146876145
rs146876145
RYR1
2 0.925 0.040 19 38586140 missense variant C/T snv 2.8E-05 2.1E-05 0.700 1.000 6 2002 2015
dbSNP: rs118192124
rs118192124
RYR1
4 0.851 0.120 19 38500636 missense variant C/T snv 0.020 1.000 2 2000 2014
dbSNP: rs121918595
rs121918595
RYR1
3 0.925 0.040 19 38580094 missense variant C/T snv 4.0E-06 0.020 1.000 2 2000 2012
dbSNP: rs193922803
rs193922803
RYR1
1 1.000 0.040 19 38499670 missense variant C/T snv 2.1E-05 0.020 1.000 2 2004 2014
dbSNP: rs193922876
rs193922876
RYR1
1 1.000 0.040 19 38580114 missense variant C/T snv 0.020 1.000 2 2008 2010
dbSNP: rs1263187768
rs1263187768
RYR1
1 1.000 0.040 19 38565233 missense variant C/T snv 0.010 1.000 1 2013 2013