Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727503586 0.923 0.143 2 178589508 stop gained A/T snp 3
rs727504389 15 63059604 missense variant A/T snp 1
rs869025399
DSP
6 7582987 frameshift variant AA/A in-del 1
rs876657663
TTN
2 178759040 splice donor variant AAACGTGT/A in-del 1
rs397516784 0.923 0.071 6 118558961 inframe deletion AAGA/A in-del 4
rs1131692278 0.923 0.071 18 31546441 frameshift variant AAGAG/A in-del 4.0E-06; 3.6E-05 3.2E-05 3
rs869312059 2 178564863 frameshift variant AAGCATCTG/A in-del 1
rs869312066 2 178546473 frameshift variant AATCGGGC/A in-del 1
rs397517643 0.923 0.143 2 178592914 frameshift variant AC/A in-del 3
rs727504782 2 178562725 frameshift variant AC/A in-del 1
rs730880245 2 178612908 frameshift variant AC/A in-del 1
rs869025555 2 178547276 frameshift variant AC/A in-del 1
rs869312044
TTN
2 178631256 frameshift variant AC/A in-del 1
rs869312110 2 178598876 frameshift variant AC/A in-del 1
rs727505076 2 178551188 stop gained ACGC/ATCACACCCACTTA in-del 1
rs869312064 2 178552812 frameshift variant ACT/A in-del 1
rs397517576
TTN
2 178629361 frameshift variant AG/A in-del 1
rs727503552 2 178557838 frameshift variant AG/A in-del 1
rs794729320 2 178614651 frameshift variant AG/A in-del 1
rs727504452
TTN
2 178702186 frameshift variant AGCTCTGCCGT/A in-del 1
rs397517695 2 178572305 frameshift variant AT/A in-del 1
rs727504466 2 178591326 frameshift variant AT/A in-del 1
rs869025554 2 178557413 frameshift variant AT/A in-del 1
rs869312060 2 178563619 frameshift variant AT/A in-del 1
rs869312081 2 178552997 frameshift variant ATAAT/A in-del 8.1E-06 1