Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs1555447569
rs1555447569
SCAPER
4 0.851 0.160 15 76471314 frameshift variant ATTG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs111033258
rs111033258
CLRN1 ; CLRN1-AS1
7 0.851 0.200 3 150972565 missense variant A/C snv 2.7E-04 1.5E-04 0.700 0
dbSNP: rs111033272
rs111033272
USH2A
7 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0
dbSNP: rs111033334
rs111033334
USH2A
9 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs121908143
rs121908143
CLRN1 ; CLRN1-AS1
6 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.700 0
dbSNP: rs121908175
rs121908175
BBS2
8 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 0
dbSNP: rs1239725461
rs1239725461
SCAPER
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
4 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1305542291
rs1305542291
SCAPER
3 0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1395475624
rs1395475624
SCAPER
3 0.882 0.160 15 76753813 inframe deletion CTT/- delins 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs146733615
rs146733615
USH2A
4 0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1553263572
rs1553263572
USH2A
2 0.925 1 215798946 missense variant A/T snv 0.700 0
dbSNP: rs1558811557
rs1558811557
CNGA3
5 0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs199636364
rs199636364
CNGA1 ; NIPAL1 ; LOC101927157
3 0.882 0.080 4 47952608 stop gained G/A snv 7.2E-05 6.3E-05 0.700 0
dbSNP: rs199679165
rs199679165
USH2A
6 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs201866631
rs201866631
USH1G
4 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.700 0
dbSNP: rs368049814
rs368049814
USH2A
4 0.851 0.200 1 215786715 missense variant C/T snv 3.6E-05 7.7E-05 0.700 0