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: 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: rs199474716
rs199474716
TPM3
1 1.000 0.080 1 154172953 missense variant T/G snv 0.700 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: rs397516248
rs397516248
MYH7 ; MHRT
6 0.851 0.200 14 23415153 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs886041268
rs886041268
ACTB
1 1.000 0.080 7 5529381 missense variant C/T snv 0.010 1.000 1 2019 2019
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: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 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: 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: 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