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: rs118192170
rs118192170
RYR1
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2005 2005
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: rs118204422
rs118204422
RYR1
1 1.000 0.040 19 38543816 missense variant T/C snv 0.010 1.000 1 2008 2008
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: rs121918594
rs121918594
RYR1
2 0.925 0.040 19 38500655 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1263187768
rs1263187768
RYR1
1 1.000 0.040 19 38565233 missense variant C/T snv 0.010 1.000 1 2013 2013
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: 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: 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: rs1447246862
rs1447246862
RYR1
2 1.000 0.040 19 38580418 missense variant G/A snv 0.010 1.000 1 2015 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: rs148399313
rs148399313
RYR1
1 1.000 0.040 19 38543365 missense variant G/A snv 1.2E-05 0.010 1.000 1 2011 2011
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: 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: 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: 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: rs193922790
rs193922790
RYR1
2 1.000 0.040 19 38494621 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs193922802
rs193922802
RYR1
3 0.925 0.040 19 38499655 missense variant G/A snv 0.010 1.000 1 2001 2001
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: rs193922860
rs193922860
RYR1
1 1.000 0.040 19 38572206 missense variant G/A snv 6.0E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs193922867
rs193922867
RYR1
2 0.925 0.040 19 38577954 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs193922868
rs193922868
RYR1
2 0.925 0.040 19 38577955 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs193922888
rs193922888
RYR1
2 1.000 0.040 19 38584976 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs74315296
rs74315296
CPT2
6 0.827 0.240 1 53211181 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs745380388
rs745380388
MEPE
1 1.000 0.040 4 87845610 missense variant G/C snv 0.010 1.000 1 1992 1992