Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 14
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs1567053134
CYP11A1
0.925 0.040 15 74345160 frameshift variant AG/- del 8
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv 8
rs1565977796
CDK8
0.882 0.120 13 26337623 stop gained C/A snv 7
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7