Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727503559
TTN ; TTN-AS1
1.000 0.040 2 178565120 frameshift variant TGGCAGCCACCAGTAT/- delins 2
rs727503602
TTN-AS1 ; TTN
1.000 0.040 2 178604049 stop gained C/T snv 2
rs727503741
VCL
1.000 0.040 10 74114349 stop gained C/T snv 2
rs727504327
DNASE1L1 ; TAZ
1.000 0.120 X 154413544 missense variant G/A snv 2
rs727504379
ACTC1 ; LOC101928174
1.000 0.040 15 34791238 missense variant A/G snv 2
rs727504394
TAZ
1.000 0.120 X 154420666 frameshift variant TG/- delins 2
rs727504431
TAZ
1.000 0.120 X 154420212 missense variant G/T snv 2
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06 2
rs727504466
TTN-AS1 ; TTN
2 178591326 frameshift variant T/- del 2
rs727504597
LAMP2
1.000 0.160 X 120441803 frameshift variant A/- del 2
rs727504799
TTN ; TTN-AS1
2 178609683 splice donor variant C/G snv 2
rs727504856
TTN-AS1 ; TTN
1.000 0.040 2 178559330 frameshift variant CTTT/- del 2
rs727505109
BAG3
1.000 10 119676617 frameshift variant C/- delins 2
rs730880140
MYBPC3
1.000 0.080 11 47333297 missense variant T/C snv 7.0E-06 2
rs794728136
DSP
1.000 0.080 6 7555820 frameshift variant T/- del 2
rs794728589
LMNA
1.000 0.080 1 156115275 splice donor variant G/A;C snv 2
rs794729338
TTN-AS1 ; TTN
1.000 0.080 2 178574146 stop gained CATATGC/TA delins 2
rs869312028
TTN ; TTN-AS1
1.000 0.040 2 178557546 frameshift variant C/- delins 2
rs869312054
TTN ; TTN-AS1
2 178593566 splice donor variant A/G snv 1.4E-05 2
rs869312119
TTN ; TTN-AS1
1.000 0.040 2 178561756 stop gained G/A snv 2
rs869312122
TTN ; TTN-AS1
1.000 0.120 2 178535516 frameshift variant -/A ins 2
rs876657670
TTN ; TTN-AS1
2 178560622 stop gained C/A;T snv 2
rs104893823
TNNC1
0.882 0.040 3 52451285 missense variant C/T snv 1
rs104894505
TPM1
0.882 0.040 15 63044072 missense variant G/A snv 1
rs104894942
TAZ ; DNASE1L1
1.000 0.120 X 154413248 missense variant C/A;T snv 1