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: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1559051231
rs1559051231
1 2 178535728 stop gained C/T snv 0.700 0
dbSNP: rs1559192617
rs1559192617
1 2 178550977 frameshift variant CTTGTCATAAT/- delins 0.700 0
dbSNP: rs1559262463
rs1559262463
1 2 178558000 frameshift variant A/- del 0.700 0
dbSNP: rs1559448864
rs1559448864
1 2 178575386 frameshift variant -/A delins 0.700 0
dbSNP: rs1559469421
rs1559469421
1 2 178577230 frameshift variant -/A delins 0.700 0
dbSNP: rs1559556267
rs1559556267
1 2 178588040 frameshift variant CTGCA/- del 0.700 0
dbSNP: rs1559712733
rs1559712733
1 2 178604300 splice acceptor variant CCAGATCTAGAAATTAGA/AG delins 0.700 0
dbSNP: rs1559746821
rs1559746821
1 2 178608282 stop gained A/T snv 0.700 0
dbSNP: rs1559873786
rs1559873786
1 2 178620846 frameshift variant GATGTAT/- delins 0.700 0
dbSNP: rs1561323791
rs1561323791
1 2 178779110 stop gained C/T snv 0.700 0
dbSNP: rs1561445221
rs1561445221
TTN
1 2 178792176 frameshift variant T/- delins 0.700 0
dbSNP: rs368200299
rs368200299
2 2 178620285 stop gained G/A;T snv 4.9E-06 0.700 0
dbSNP: rs727504466
rs727504466
2 2 178591326 frameshift variant T/- del 0.700 0
dbSNP: rs727504799
rs727504799
2 2 178609683 splice donor variant C/G snv 0.700 0
dbSNP: rs769665204
rs769665204
1 2 178562076 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs794729354
rs794729354
1 2 178559741 frameshift variant AGTAC/- del 0.700 0
dbSNP: rs869312054
rs869312054
2 2 178593566 splice donor variant A/G snv 1.4E-05 0.700 0
dbSNP: rs876657670
rs876657670
2 2 178560622 stop gained C/A;T snv 0.700 0
dbSNP: rs766265889
rs766265889
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs869320740
rs869320740
5 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.700 0
dbSNP: rs397517689
rs397517689
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1553644307
rs1553644307
3 0.925 0.160 2 178591418 stop gained T/A snv 0.700 0
dbSNP: rs1553663867
rs1553663867
3 0.925 0.160 2 178598969 frameshift variant G/- del 0.700 0
dbSNP: rs1553707780
rs1553707780
4 0.925 0.040 2 178616928 frameshift variant T/- del 0.700 0