Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553255354
ACTA1
1.000 1 229431843 missense variant C/G snv 2
rs1553255501
ACTA1
1 229432792 missense variant A/C snv 1
rs1553732126
ADCY5
3 123347875 frameshift variant -/G delins 2
rs746547282
ADCY5
3 123330888 splice donor variant C/T snv 4.0E-06 7.0E-06 1
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs142684762
ADGRG1
1.000 16 57659478 missense variant A/G snv 3
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs766413410
AGK
0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 4
rs777096695
AGK
1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06 3
rs587779766
AHDC1
0.851 0.200 1 27549742 frameshift variant CA/- delins 7
rs587779767
AHDC1
0.851 0.200 1 27549218 frameshift variant G/- delins 7
rs587779768
AHDC1
0.851 0.200 1 27549569 frameshift variant G/- delins 7
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs878855327
ANKRD11
0.925 0.280 16 89279750 frameshift variant G/-;GG delins 5
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs886039477
ANKRD11
0.925 0.280 16 89282771 frameshift variant TT/- delins 3
rs1555528357
ANKRD11
1.000 16 89282837 frameshift variant ATTT/- delins 2
rs1555529297
ANKRD11
1.000 16 89284412 stop gained C/T snv 2
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins 2