Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 11
rs368934219
AARS2 ; TMEM151B
1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05 2
rs267604368
ACAN
1.000 15 88858712 stop gained G/A;T snv 2
rs1553255354
ACTA1
1.000 1 229431843 missense variant C/G snv 2
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv 7
rs769182426
ACTB
1.000 7 5528100 missense variant G/A;C snv 8.0E-06 2
rs1554329552
ACTB
1.000 7 5529265 missense variant G/C snv 1
rs797044950
ACTB
1.000 7 5528546 missense variant G/A;C snv 1
rs1555666392
ACTG1
1.000 17 81510814 missense variant C/T snv 2
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
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
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs587777526
ADNP
0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05 3
rs1555809919
ADNP
1.000 20 50892427 frameshift variant A/-;AA delins 2
rs1555810308
ADNP
1.000 20 50893377 stop gained C/T snv 1
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs267606653
ALX4
0.925 11 44267607 stop gained G/A snv 3
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
rs1221781038
ANKRD11
0.925 0.280 16 89279695 stop gained G/A;T snv 2