Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518905
DPM3
1 155140104 missense variant A/T snv 3
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv 1
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv 3
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 3
rs387907046
DNAJB6
1.000 7 157367414 missense variant T/C snv 1
rs149278319
DNAJB6
1.000 7 157367416 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 1
rs387907047
DNAJB6
1.000 7 157367424 missense variant C/G snv 1
rs869320700
DNAJB6
1.000 7 157367435 missense variant T/G snv 1
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv 1
rs730882052
CASQ1
1.000 1 160195976 missense variant A/G snv 1
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 8
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv 1
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs797046064
TTN-AS1 ; TTN
2 178634010 frameshift variant CAAA/- delins 1
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins 1
rs746721983
TTN ; TTN-AS1
2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 1
rs797046060
TTN-AS1 ; TTN
2 178719588 frameshift variant GC/T delins 1
rs121908192
NOXO1 ; GFER
0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05 1
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv 3
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 21
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 2
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 8