Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 3
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 2
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 4
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 3
rs267606673
ATP7A ; PGK1
0.776 0.240 X 78029314 missense variant C/T snv 1
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 4
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 3
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv 3
rs730882052
CASQ1
1.000 1 160195976 missense variant A/G snv 1
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 5
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 3
rs746361190
CNTNAP1
0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 4
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
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
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 3
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
rs74315296
CPT2
0.827 0.240 1 53211181 missense variant C/T snv 4.0E-06 1.4E-05 4
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 2
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 1