Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876657674
VCL
10 74074789 frameshift variant -/G delins 1
rs869312067
TTN ; TTN-AS1
2 178539796 frameshift variant -/GTTT delins 1
rs869312116
TTN ; TTN-AS1
2 178571248 frameshift variant -/GTTT delins 4.0E-06 1
rs730880365
TTN-AS1 ; TTN
1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 3
rs397517626
TTN ; TTN-AS1
1.000 0.040 2 178598977 frameshift variant -/T delins 4.1E-06 7.0E-06 2
rs774604740
TTN ; TTN-AS1
1.000 0.040 2 178570016 frameshift variant -/T delins 4.0E-06 2
rs1553741321
TTN ; TTN-AS1
2 178633304 frameshift variant -/T delins 1
rs869025556
TTN-AS1 ; TTN
2 178740362 frameshift variant -/T delins 1
rs869025558
TTN-AS1 ; TTN
2 178570817 frameshift variant -/T delins 1
rs869312045
TTN ; TTN-AS1
2 178620853 frameshift variant -/T delins 1
rs869312056
TTN-AS1 ; TTN
2 178571825 frameshift variant -/T delins 1
rs869312077
TTN-AS1 ; TTN
2 178570015 frameshift variant -/T ins 1
rs869312084
TTN-AS1 ; TTN
2 178543512 frameshift variant -/T delins 1
rs876657669
TTN-AS1 ; TTN
2 178573299 frameshift variant -/T delins 1
rs749838192
SCO2 ; NCAPH2
22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04 1
rs397517888
LMNA
1.000 0.080 1 156136074 frameshift variant -/TGGA delins 2
rs1564773559
BAG3
10 119669920 frameshift variant -/TGTGTAC delins 1
rs869312050
TTN-AS1 ; TTN
2 178608783 frameshift variant -/TTTTC delins 1
rs727504531
TTN-AS1 ; TTN
0.925 0.160 2 178573463 frameshift variant A/- del 3
rs727504851
TTN ; TTN-AS1
0.925 0.160 2 178613159 splice donor variant A/- del 1.6E-05 2.8E-05 3
rs727504597
LAMP2
1.000 0.160 X 120441803 frameshift variant A/- del 2
rs397517758
TTN ; TTN-AS1
2 178547729 frameshift variant A/- delins 1
rs727503658
TTN ; TTN-AS1
2 178740828 frameshift variant A/- del 1
rs727504655
TTN-AS1 ; TTN
2 178575857 frameshift variant A/- del 1
rs727505077
DSP
6 7571432 frameshift variant A/- del 1