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: rs118192173
rs118192173
RYR1
1 1.000 0.160 19 38443612 missense variant C/T snv 8.0E-05 5.6E-05 0.800 1.000 1 2012 2012
dbSNP: rs118192174
rs118192174
RYR1
5 0.882 0.200 19 38499961 missense variant T/A snv 2.0E-05 2.1E-05 0.800 1.000 1 2012 2012
dbSNP: rs118192140
rs118192140
RYR1
4 0.851 0.160 19 38573304 missense variant C/T snv 4.4E-05 4.2E-05 0.700 1.000 3 2007 2016
dbSNP: rs200563280
rs200563280
RYR1
4 0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.700 1.000 3 2010 2016
dbSNP: rs367543056
rs367543056
RYR1
2 0.925 0.160 19 38490709 missense variant A/T snv 0.700 1.000 3 2003 2010
dbSNP: rs367543057
rs367543057
RYR1
2 0.925 0.160 19 38517651 missense variant C/A snv 0.700 1.000 3 2003 2010
dbSNP: rs367543058
rs367543058
RYR1
3 0.882 0.160 19 38519399 missense variant T/G snv 2.2E-05 4.9E-05 0.700 1.000 3 2003 2010
dbSNP: rs111436401
rs111436401
RYR1
4 0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs118192117
rs118192117
RYR1
3 0.882 0.160 19 38451846 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1226228092
rs1226228092
RYR1
1 1.000 0.160 19 38492637 splice donor variant G/A snv 1.7E-05 4.2E-05 0.700 0
dbSNP: rs1568476203
rs1568476203
RYR1
1 1.000 0.160 19 38478475 frameshift variant TT/- delins 0.700 0
dbSNP: rs1568501473
rs1568501473
RYR1
1 1.000 0.160 19 38499908 frameshift variant C/- del 0.700 0
dbSNP: rs193922771
rs193922771
RYR1
1 1.000 0.160 19 38455697 frameshift variant -/ATCA delins 0.700 0
dbSNP: rs193922836
rs193922836
RYR1
1 1.000 0.160 19 38523111 missense variant C/T snv 0.700 0
dbSNP: rs193922837
rs193922837
RYR1
4 0.851 0.160 19 38523211 splice region variant C/G snv 2.0E-05 9.8E-05 0.700 0
dbSNP: rs193922870
rs193922870
RYR1
1 1.000 0.160 19 38579980 splice acceptor variant A/T snv 0.700 0
dbSNP: rs193922886
rs193922886
RYR1
1 1.000 0.160 19 38583494 intron variant A/G snv 7.4E-06 0.700 0
dbSNP: rs371027185
rs371027185
RYR1
1 1.000 0.160 19 38517389 missense variant T/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs377178986
rs377178986
RYR1
4 0.851 0.160 19 38543420 stop gained C/A snv 2.4E-05 3.5E-05 0.700 0
dbSNP: rs876661306
rs876661306
RYR1
1 1.000 0.160 19 38458216 inframe deletion GGGCTGGGGCGGCAACGGGGTCGGCGA/- delins 0.700 0