Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 11
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
rs727502810
RIC3 ; TUB
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 8
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins 7
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 7
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 7
rs534542684
KIAA0586
0.827 0.240 14 58432439 frameshift variant G/- del 3.1E-03 3.4E-03 6
rs777103184
PCARE
0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 6
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins 6
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs199679165
USH2A
0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 6
rs876657731
USH2A ; LOC102723833
0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 6
rs483353055
USH2A ; LOC105372918
0.827 0.200 1 216200031 missense variant C/T snv 6
rs1558811557
CNGA3
0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins 5
rs28934897
MVK
0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 5
rs727504301
PCDH15
0.851 0.200 10 54090054 stop gained G/A;C snv 5
rs398124619
USH2A
0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05 5
rs1303044966
ABHD12
0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 4
rs111033258
CLRN1-AS1 ; CLRN1
0.851 0.200 3 150972565 missense variant A/C snv 2.7E-04 1.5E-04 4