Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1
rs267606673
ATP7A ; PGK1
0.776 0.240 X 78029314 missense variant C/T snv 1
rs730882052
CASQ1
1.000 1 160195976 missense variant A/G snv 1
rs797045477
COL6A1
21 45990771 splice acceptor variant A/G snv 1
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05 1
rs774521989
COL6A2
21 46132125 missense variant C/T snv 1.6E-05 4.9E-05 1
rs797045478
COL6A2
21 46116045 missense variant G/A snv 1
rs797045479
COL6A3
2 237361150 stop gained G/A snv 1
rs199476140
COX1 ; ND2 ; TRNQ ; ND1
MT 4365 non coding transcript exon variant -/A delins 1
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 1
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv 1
rs57639980
DES
1.000 0.160 2 219421350 missense variant T/C snv 1
rs1057518866
DMD
X 32343174 stop gained A/C snv 1
rs149278319
DNAJB6
1.000 7 157367416 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 1
rs387907046
DNAJB6
1.000 7 157367414 missense variant T/C snv 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
rs122458140
FHL1
0.925 0.120 X 136207825 missense variant G/C snv 1
rs122458141
FHL1
1.000 0.120 X 136208625 missense variant C/G snv 1
rs122458142
FHL1
1.000 X 136207827 missense variant C/T snv 1
rs122458143
FHL1
1.000 X 136207855 missense variant G/T snv 1
rs387906587
FLNC
1.000 7 128835550 missense variant G/A snv 1
rs267607190
ISCU
1.000 0.120 12 108564313 missense variant G/A;C snv 1.2E-05; 4.0E-06 1
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv 1
rs387906657
MYBPC1
0.925 0.080 12 101642459 missense variant T/C snv 7.0E-06 1