Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777695
ZSWIM6
0.925 0.120 5 61544156 missense variant C/T snv 4
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06 3
rs797044854
ZMYND11
0.925 10 252459 missense variant C/A;T snv 4
rs1553961697
ZEB2
2 144399650 frameshift variant G/- del 1
rs797044863
ZC4H2
1.000 X 64921894 stop gained G/A snv 3
rs1555933851
ZC4H2
1.000 X 64919152 frameshift variant -/G delins 2
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv 4
rs797044806
XYLT2
0.925 17 50354465 frameshift variant -/C delins 3
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs864321692
WAC
0.925 10 28583498 stop gained C/A snv 4
rs1555198839
VWF
12 6062953 splice donor variant C/A snv 1
rs137853063
VRK1
0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 3
rs398122407
VPS33B
1.000 0.200 15 91004872 splice region variant C/G snv 2.0E-05 2
rs1442840881
VPS33B
15 91006391 frameshift variant -/G delins 4.0E-06 2.1E-05 1
rs121964881
VAX2 ; ATP6V1B1
1.000 2 70958103 missense variant G/A snv 2.0E-05 9.1E-05 2
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
rs1553565140
TWIST2 ; LOC100287387
0.925 0.240 2 238848438 missense variant G/A;C snv 3
rs1555625571
TUBB3
16 89934974 missense variant G/C snv 2
rs587777357
TUBB
0.925 6 30724263 missense variant G/A snv 4
rs1555162323
TUBA1A
1.000 12 49185407 missense variant C/T snv 2
rs1555162407
TUBA1A
12 49185942 missense variant C/A;T snv 1
rs1553650442
TTN ; TTN-AS1
0.925 0.160 2 178593732 frameshift variant C/-;CCC delins 3
rs1553485330
TTN-AS1 ; TTN
2 178531129 frameshift variant C/- delins 1