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: rs869320740
rs869320740
5 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.730 1.000 3 2014 2016
dbSNP: rs138060032
rs138060032
TTN
1 1.000 0.160 2 178799566 missense variant G/A snv 1.9E-04 2.9E-04 0.710 < 0.001 1 2010 2010
dbSNP: rs753334568
rs753334568
3 0.882 0.200 2 178546041 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 3 2014 2014
dbSNP: rs574660186
rs574660186
7 0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs1553543413
rs1553543413
6 0.807 0.200 2 178553783 frameshift variant -/T delins 0.700 0
dbSNP: rs1559187287
rs1559187287
1 1.000 0.160 2 178550221 frameshift variant -/TT delins 0.700 0
dbSNP: rs1560689563
rs1560689563
1 1.000 0.160 2 178722307 missense variant A/G snv 0.700 0
dbSNP: rs786205367
rs786205367
1 1.000 0.160 2 178546050 missense variant C/A;G snv 0.700 0
dbSNP: rs794729340
rs794729340
6 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0
dbSNP: rs869178171
rs869178171
7 0.790 0.200 2 178563475 stop gained C/A snv 0.700 0
dbSNP: rs869312099
rs869312099
6 0.807 0.200 2 178738361 splice acceptor variant C/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs869320739
rs869320739
1 1.000 0.160 2 178546110 missense variant G/C;T snv 0.700 0
dbSNP: rs869320741
rs869320741
2 0.925 0.200 2 178546051 missense variant A/G snv 0.700 0
dbSNP: rs869320742
rs869320742
1 1.000 0.160 2 178546049 missense variant C/G snv 0.700 0
dbSNP: rs869320743
rs869320743
1 1.000 0.160 2 178545878 missense variant G/C snv 0.700 0
dbSNP: rs140319117
rs140319117
1 1.000 0.160 2 178534344 missense variant G/A snv 1.1E-03; 4.0E-06 9.4E-04 0.010 1.000 1 2014 2014