Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 7
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 5
rs28936670 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 5
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 5
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 4
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 4
rs121913400 0.683 0.360 3 41224610 missense variant C/A;G;T snv 4
rs121918488 0.790 0.120 10 121517379 missense variant A/C;G;T snv 4
rs121913105 0.653 0.600 4 1806163 missense variant A/C;T snv 4
rs78311289 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 4
rs121913483 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 4
rs121913482 0.630 0.680 4 1801837 missense variant C/T snv 4
rs121913479 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 4
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv 4
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 4
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 4
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 4
rs113994098 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 4
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 4
rs137854618 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 4
rs267607040 0.851 0.320 18 44951948 missense variant G/A snv 4
rs267607042 0.851 0.320 18 44951942 missense variant G/A;C snv 4
rs1762111 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 3
rs72552778 0.827 0.040 7 87447080 missense variant G/A snv 1.6E-04 1.7E-04 3
rs137852591
AR
0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03 3