Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1114167453
PPP1R13L
1.000 19 45385569 stop gained G/C snv 4
rs1557315928
DMD
X 32380517 stop gained C/T snv 4
rs267607495
DES
2 219418497 missense variant C/T snv 2
rs267607577
LMNA
1 156136352 frameshift variant GCACGCAC/-;GCACGCACGCAC delins 2
rs368200299
TTN-AS1 ; TTN
2 178620285 stop gained G/A;T snv 4.9E-06 2
rs397516369
TPM1
1.000 15 63057081 missense variant C/G snv 2
rs397517065
ACTC1 ; LOC101928174
15 34792471 missense variant G/A snv 2
rs45516091
MYH7
14 23431608 missense variant G/A snv 1.2E-05 7.0E-06 2
rs587777587
RAF1
1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05 2
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06 2
rs727504466
TTN-AS1 ; TTN
2 178591326 frameshift variant T/- del 2
rs727504799
TTN ; TTN-AS1
2 178609683 splice donor variant C/G snv 2
rs727505109
BAG3
1.000 10 119676617 frameshift variant C/- delins 2
rs869312054
TTN ; TTN-AS1
2 178593566 splice donor variant A/G snv 1.4E-05 2
rs876657670
TTN ; TTN-AS1
2 178560622 stop gained C/A;T snv 2
rs1064793814
TTN-AS1 ; TTN
2 178559769 stop gained C/T snv 1
rs111569862
LMNA
1 156137653 splice acceptor variant G/A;C snv 1
rs112240298
TTN ; TTN-AS1
2 178538945 splice donor variant C/G;T snv 1
rs1408345511
TTN-AS1 ; TTN
2 178740175 frameshift variant G/- delins 4.0E-06 1
rs148894066
DSP
6 7579697 stop gained C/A;T snv 1.4E-04 1
rs1553479603
TTN ; TTN-AS1
2 178528524 splice donor variant ACTGGCAGGTTGTTTTTAAACCATTCGATT/- delins 1
rs1553577362
TTN-AS1 ; TTN
2 178564611 frameshift variant G/- delins 1
rs1553603456
TTN ; TTN-AS1
2 178570689 frameshift variant C/- delins 1
rs1553607425
TTN ; TTN-AS1
2 178572745 frameshift variant C/- delins 1
rs1553691320
TTN-AS1 ; TTN
2 178609440 frameshift variant T/- del 1