Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17683288
ARHGEF10
0.925 0.080 8 1929314 missense variant T/G snv 5.4E-02 5.0E-02 2
rs2294039
ARHGEF10
0.925 0.080 8 1909425 missense variant G/A snv 3.1E-02 3.1E-02 2
rs1553192091
ATP1A1 ; ATP1A1-AS1
0.925 0.080 1 116395247 missense variant C/A;G snv 2
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv 2
rs730882139
DNAJB2
0.925 0.080 2 219281772 splice donor variant G/A snv 2
rs730882140
DNAJB2
0.925 0.080 2 219279847 missense variant A/G snv 2
rs281865139
EGR2
0.925 0.080 10 62813478 missense variant G/T snv 2
rs138034837
FXN
0.925 0.120 9 69072622 missense variant C/T snv 2
rs137852646
GARS1
0.925 0.080 7 30628598 missense variant G/A;C snv 2
rs121908113
GDAP1
0.925 0.080 8 74363011 missense variant C/G snv 2
rs756461496
GDAP1
0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 2
rs104894814
GJB1
0.925 0.080 X 71224365 stop gained C/G;T snv 2
rs104894822
GJB1
0.925 0.080 X 71224321 missense variant A/G snv 2
rs199615251
GNB4
0.925 0.080 3 179413452 missense variant T/C snv 4.0E-06 2
rs387907340
GNB4
0.925 0.080 3 179419444 missense variant C/T snv 2
rs1176654400
HK1
0.925 0.080 10 69359951 missense variant G/A snv 7.0E-06 2
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G snv 2
rs1057515421
LMNA
0.925 0.120 1 156136284 stop gained C/T snv 2
rs756880678
LRSAM1
0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05 2
rs786200930
LRSAM1
0.925 0.080 9 127502846 frameshift variant -/GC delins 2
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05 2
rs2236057
MFN2
0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 2
rs121913608
MPZ
0.925 0.080 1 161306789 missense variant C/T snv 2
rs1553259643
MPZ
0.925 0.080 1 161306719 frameshift variant TACA/- delins 2
rs1553259703
MPZ
0.925 0.080 1 161306900 stop gained G/A snv 2