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: rs61752419
rs61752419
ABCA4
1 1 94042786 stop gained C/T snv 0.700 1.000 1 2001 2001
dbSNP: rs764759172
rs764759172
ABCA4
3 0.925 0.040 1 94080692 frameshift variant G/- del 0.700 1.000 1 2011 2011
dbSNP: rs778234759
rs778234759
ABCA4
3 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 0.700 1.000 1 2013 2013
dbSNP: rs869312184
rs869312184
ABCA4
1 1 94048898 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1356104318
rs1356104318
ABCA4
1 1 94098850 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs149071415
rs149071415
ABCA4
1 1 94047024 missense variant A/G snv 4.0E-05 8.4E-05 0.700 0
dbSNP: rs1553193813
rs1553193813
ABCA4
2 1.000 0.080 1 94077747 stop gained C/T snv 0.700 0
dbSNP: rs776757706
rs776757706
ABCA4
1 1 94014688 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs878853396
rs878853396
ABCA4
1 1 94062641 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs878853397
rs878853397
ABCA4
1 1 94043428 frameshift variant T/- delins 0.700 0
dbSNP: rs758316679
rs758316679
ABHD12
1 20 25339350 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1555811525
rs1555811525
ABHD12
1 20 25309577 splice acceptor variant T/C snv 0.700 0
dbSNP: rs878853348
rs878853348
ADGRV1
1 5 90679604 frameshift variant TTCC/- delins 0.700 0
dbSNP: rs1553403585
rs1553403585
ALMS1
1 2 73449482 frameshift variant -/CTATTCTGGACTG ins 0.700 0
dbSNP: rs1052954321
rs1052954321
ALPK1
6 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs764109067
rs764109067
ARL13B
6 0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs199830550
rs199830550
ARL2BP ; PLLP
2 1.000 16 57248644 splice donor variant G/A;C;T snv 1.2E-04; 4.6E-06; 4.6E-06 0.700 0
dbSNP: rs768933093
rs768933093
BBS10
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
dbSNP: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 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 1.000 2 2002 2016
dbSNP: rs121908180
rs121908180
BBS2
3 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs878853352
rs878853352
BBS7
1 4 121828692 stop gained AG/TCT delins 0.700 0
dbSNP: rs1555096248
rs1555096248
BEST1
1 11 61950428 splice donor variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1554998040
rs1554998040
CABP4
1 11 67458613 splice acceptor variant TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAG/- del 0.700 0
dbSNP: rs1557106557
rs1557106557
CACNA1F
2 1.000 0.040 X 49212756 missense variant G/A snv 0.700 1.000 1 2015 2015