Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 5
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
rs769182426
ACTB
1.000 7 5528100 missense variant G/A;C snv 8.0E-06 2
rs397517065
ACTC1 ; LOC101928174
15 34792471 missense variant G/A snv 2
rs1555666392
ACTG1
1.000 17 81510814 missense variant C/T snv 2
rs587777384
ACTG2
1.000 0.040 2 73913566 missense variant G/A;T snv 2
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv 3
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
rs1555809836
ADNP
20 50892215 frameshift variant T/- delins 1
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
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs1555529572
ANKRD11
1.000 16 89284912 frameshift variant GTGCTGGT/- delins 2
rs797044890
ANKRD11
16 89275092 splice donor variant C/T snv 1
rs1555904596
ANOS1
1.000 X 8731936 frameshift variant -/AGCAGCCGCGC delins 2
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins 3
rs1554234424
ARID1B
1.000 6 157196295 stop gained T/A snv 2
rs797045282
ARID1B
1.000 0.280 6 157206545 stop gained C/T snv 2
rs1554231814
ARID1B
6 157184262 frameshift variant C/- del 1
rs797044859
ARID1B
6 157200765 frameshift variant AT/- del 1
rs587783211
ASPM
0.925 0.120 1 197086966 stop gained G/A snv 2.0E-05 3.5E-05 3
rs1189399471
ASPM
1.000 1 197103099 frameshift variant T/- del 2