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: rs121964854
rs121964854
TPM3
3 0.882 0.080 1 154172972 missense variant G/A;C snv 0.810 1.000 19 2002 2017
dbSNP: rs121964853
rs121964853
TPM3
2 0.925 0.080 1 154176194 missense variant G/C;T snv 0.810 1.000 6 2008 2015
dbSNP: rs121908188
rs121908188
SELENON
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.810 1.000 5 2002 2013
dbSNP: rs199474713
rs199474713
TPM3
1 1.000 0.080 1 154176220 missense variant C/G snv 0.810 1.000 5 2008 2018
dbSNP: rs121964852
rs121964852
TPM3
4 0.851 0.080 1 154172971 missense variant C/T snv 0.810 1.000 4 2008 2014
dbSNP: rs199474711
rs199474711
TPM3
1 1.000 0.080 1 154192008 missense variant G/A snv 0.800 1.000 4 2008 2014
dbSNP: rs199474715
rs199474715
TPM3
1 1.000 0.080 1 154172969 missense variant T/C snv 0.800 1.000 4 2008 2014
dbSNP: rs199474717
rs199474717
TPM3
1 1.000 0.080 1 154170454 missense variant C/T snv 0.800 1.000 4 2008 2014
dbSNP: rs199474718
rs199474718
TPM3
1 1.000 0.080 1 154170442 missense variant T/C snv 0.800 1.000 4 2008 2014
dbSNP: rs121909529
rs121909529
ACTA1
1 1.000 0.080 1 229431830 missense variant T/A snv 0.800 1.000 2 2004 2007
dbSNP: rs121909530
rs121909530
ACTA1
1 1.000 0.080 1 229432134 missense variant A/G snv 0.800 1.000 2 2004 2007
dbSNP: rs121909531
rs121909531
ACTA1
1 1.000 0.080 1 229431633 missense variant G/A snv 0.800 1.000 2 2004 2007
dbSNP: rs199474716
rs199474716
TPM3
1 1.000 0.080 1 154172953 missense variant T/G snv 0.700 1.000 4 2008 2014
dbSNP: rs104894129
rs104894129
TPM2
4 0.851 0.120 9 35685672 missense variant C/T snv 0.700 0
dbSNP: rs111364670
rs111364670
RYR1
1 1.000 0.080 19 38510566 splice donor variant G/A;T snv 0.700 0
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: rs118192140
rs118192140
RYR1
4 0.851 0.160 19 38573304 missense variant C/T snv 4.4E-05 4.2E-05 0.700 0
dbSNP: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 0
dbSNP: rs143849895
rs143849895
RYR1
1 1.000 0.080 19 38566953 stop gained G/A;C;T snv 3.4E-05 0.700 0
dbSNP: rs1553198464
rs1553198464
SELENON
1 1.000 0.080 1 25800218 start lost AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/- delins 0.700 0
dbSNP: rs1553248515
rs1553248515
TPM3
2 0.925 0.080 1 154170417 missense variant G/T snv 0.700 0
dbSNP: rs1553251644
rs1553251644
TPM3
1 1.000 0.080 1 154191976 missense variant C/G 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: rs199564797
rs199564797
SELENON
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0