Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1561273261
DIMT1 ; KIF2A
0.790 0.160 5 62361307 missense variant G/A snv 17
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12