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: 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
dbSNP: rs267606908
rs267606908
MYH7
9 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs3218713
rs3218713
MYH7
10 0.763 0.160 14 23431468 missense variant C/A;T snv 0.700 0
dbSNP: rs3218714
rs3218714
MYH7
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.700 0
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs367543048
rs367543048
ACTA1
2 0.925 0.080 1 229433100 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs367543049
rs367543049
ACTA1
2 0.925 0.080 1 229432867 missense variant C/T snv 0.700 0
dbSNP: rs367543050
rs367543050
ACTA1
1 1.000 0.080 1 229432181 missense variant C/G snv 0.700 0
dbSNP: rs367543051
rs367543051
ACTA1
2 0.925 0.080 1 229432075 missense variant C/T snv 0.700 0
dbSNP: rs367543052
rs367543052
MYH7 ; MHRT
4 0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 0.700 0
dbSNP: rs367543054
rs367543054
RYR1
1 1.000 0.080 19 38446706 stop gained T/G snv 0.700 0
dbSNP: rs367543055
rs367543055
RYR1
1 1.000 0.080 19 38485988 stop gained C/A;T snv 4.1E-06 0.700 0
dbSNP: rs367543056
rs367543056
RYR1
2 0.925 0.160 19 38490709 missense variant A/T snv 0.700 0
dbSNP: rs367543057
rs367543057
RYR1
2 0.925 0.160 19 38517651 missense variant C/A snv 0.700 0