Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs756461496
GDAP1
0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 2
rs121908113
GDAP1
0.925 0.080 8 74363011 missense variant C/G snv 1
rs1476856429
GDAP1
0.882 0.080 8 74364057 missense variant A/G snv 1.2E-05 7.0E-06 1
rs397515432
GDAP1
0.882 0.080 8 74364270 missense variant G/A snv 1
rs886041386
GDAP1
1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05 1
rs104894826
GJB1
0.882 0.080 X 71224114 missense variant T/C snv 2
rs104894814
GJB1
0.925 0.080 X 71224365 stop gained C/G;T snv 1
rs104894822
GJB1
0.925 0.080 X 71224321 missense variant A/G snv 1
rs1555937009
GJB1
1.000 0.080 X 71223757 missense variant C/G snv 1
rs199615251
GNB4
0.925 0.080 3 179413452 missense variant T/C snv 4.0E-06 1
rs387907340
GNB4
0.925 0.080 3 179419444 missense variant C/T snv 1
rs29001571
HSPB1
0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 2
rs1060503021
HSPB1
0.925 0.080 7 76304077 stop gained GC/CT mnv 1
rs587781250
HSPB1
1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05 1
rs863225022
HSPB1
0.882 0.080 7 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06 1
rs863225023
HSPB1
0.925 0.080 7 76304078 stop gained C/T snv 4.0E-06 1.4E-05 1
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 2
rs137852667
IGHMBP2
0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05 3
rs372000714
IGHMBP2
0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06 3
rs724159994
IGHMBP2
0.882 0.120 11 68939658 frameshift variant AG/- delins 3
rs797044802
IGHMBP2
0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06 3
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G snv 2
rs797044803
IGHMBP2
1.000 0.080 11 68938355 splice donor variant G/T snv 2.1E-05 1
rs121908160
KIF1B
0.882 0.080 1 10258602 missense variant A/T snv 2
rs59885338
LMNA
0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 4