Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17183814
SCN2A
0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 7
rs116840778
SSUH2 ; CAV3
0.882 0.200 3 8733956 missense variant G/A;C snv 7
rs104894345
LOC107984440 ; HSPB8
0.827 0.080 12 119187080 missense variant G/C;T snv 6
rs587781262
PRPS1
0.882 0.240 X 107640938 missense variant A/G snv 6
rs104894664
TTR
0.882 0.120 18 31592959 missense variant G/A snv 6
rs121918068
TTR
0.882 0.200 18 31592983 missense variant T/A;C snv 6
rs958191819
TTR
0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 6
rs74315321
GJB3 ; SMIM12 ; LOC105378642
0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05 5
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 5
rs587781263
PRPS1
0.925 0.240 X 107650000 missense variant G/T snv 5
rs1555937122
GJB1
0.925 0.080 X 71223973 missense variant T/C snv 4
rs28939680
HSPB1
0.925 0.080 7 76303841 missense variant C/A;G;T snv 4
rs74315316
LOC105378642 ; SMIM12 ; GJB3
0.925 0.080 1 34784797 missense variant G/A snv 4
rs80356711
PRNP
1.000 20 4699698 stop gained C/T snv 4
rs879253863
TRIM2
0.925 0.160 4 153324126 missense variant A/C snv 4
rs17032980 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 3
rs4463516 1.000 0.120 9 32867483 intron variant G/C;T snv 3
rs12786200
FAT3
1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 3
rs74315317
GJB3 ; SMIM12 ; LOC105378642
1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06 3
rs1418474769
GJC2
1.000 0.080 1 228157761 start lost G/T snv 3
rs2228224
GLI1
1.000 0.120 12 57471538 missense variant G/A snv 0.50 0.48 3
rs1858826
GNGT1
1.000 0.080 7 93719703 intron variant C/T snv 0.90 3
rs143473232
HARS1
1.000 5 140679789 missense variant G/A;C snv 4.0E-06 3
rs28937569
HSPB1
1.000 0.040 7 76304100 missense variant C/T snv 3
rs113993956
MYH14
1.000 19 50268255 missense variant G/A;T snv 6.2E-04 3