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: rs730880837
rs730880837
MYH7
1 14 23432689 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs104894127
rs104894127
TPM2
4 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1114167361
rs1114167361
FLNC
6 0.827 0.160 7 128845022 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs118192168
rs118192168
RYR1
4 0.882 0.120 19 38580403 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1305971341
rs1305971341
RYR1
1 19 38458108 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs137853306
rs137853306
TPM2
6 0.882 0.080 9 35689265 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1447246862
rs1447246862
RYR1
2 1.000 0.040 19 38580418 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs368874586
rs368874586
RYR1
1 19 38586150 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs748492214
rs748492214
RYR1
1 19 38458107 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs786201023
rs786201023
MYH2 ; MYHAS
3 1.000 0.160 17 10523154 missense variant A/G snv 0.010 1.000 1 2015 2015