Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv 5
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv 5
rs724159992
ABAT
1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 5
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1057518794
ARX
X 25004777 frameshift variant TCTG/- delins 1
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins 4
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs184953805
ATRIP ; TREX1 ; ATRIP-TREX1
0.882 0.200 3 48467284 stop gained G/A snv 8
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4