Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
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
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv 21
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 19
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 16
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 6
rs1555549674
STAT5B
0.882 0.240 17 42223402 missense variant T/G snv 6
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 4
rs77010898
CFTR
0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs121912633
TRPV4
0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 4
rs869312169
DOCK8
0.925 0.080 9 452067 frameshift variant -/T delins 3