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: 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: rs756042537
rs756042537
CACNA1C
1 1.000 0.040 12 2449072 missense variant C/T snv 9.8E-06 0.010 1.000 1 1995 1995
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: rs118192161
rs118192161
RYR1
5 0.882 0.120 19 38444211 missense variant C/T snv 0.060 1.000 6 1995 2011
dbSNP: rs1801086
rs1801086
RYR1
2 0.925 0.040 19 38446710 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 1992 1992
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: rs121918592
rs121918592
RYR1
4 0.882 0.080 19 38448712 missense variant G/A;C snv 0.050 0.800 5 1995 1998
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: rs118192162
rs118192162
RYR1
6 0.851 0.120 19 38455359 missense variant A/C;G snv 0.060 1.000 6 2005 2019
dbSNP: rs118204423
rs118204423
RYR1
1 1.000 0.040 19 38457539 missense variant G/A;C snv 2.4E-05 1.4E-05 0.010 1.000 1 2012 2012
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: 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: rs193922781
rs193922781
RYR1
2 0.925 0.040 19 38485838 missense variant C/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs118192163
rs118192163
RYR1
3 0.882 0.120 19 38494565 missense variant G/A;C;T snv 0.030 1.000 3 2000 2004
dbSNP: rs118192176
rs118192176
RYR1
4 0.882 0.120 19 38494579 missense variant G/A snv 0.030 1.000 3 2001 2015
dbSNP: rs193922790
rs193922790
RYR1
2 1.000 0.040 19 38494621 missense variant A/T snv 0.010 1.000 1 2003 2003
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: 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: rs193922802
rs193922802
RYR1
3 0.925 0.040 19 38499655 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs772288551
rs772288551
RYR1
1 1.000 0.040 19 38499664 missense variant G/A snv 4.2E-06 0.010 1.000 1 2014 2014
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: rs193922807
rs193922807
RYR1
2 1.000 0.040 19 38499731 missense variant G/C snv 0.020 1.000 2 2003 2004
dbSNP: rs121918593
rs121918593
RYR1
3 0.925 0.040 19 38499993 missense variant G/A snv 3.2E-05 5.6E-05 0.070 1.000 7 1994 2018
dbSNP: rs28933396
rs28933396
RYR1
4 0.882 0.120 19 38499997 missense variant G/A;T snv 0.030 1.000 3 1994 2004
dbSNP: rs118192124
rs118192124
RYR1
4 0.851 0.120 19 38500636 missense variant C/T snv 0.020 1.000 2 2000 2014