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: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs111733491
rs111733491
LRP2
1 2 169236027 missense variant C/A;G;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs1189889920
rs1189889920
IQCB1
1 3 121790208 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1196489060
rs1196489060
PROM1
1 4 16018318 splice region variant C/T snv 4.0E-06 1.4E-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: rs1356104318
rs1356104318
ABCA4
1 1 94098850 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs138504221
rs138504221
SGSH
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
dbSNP: rs1435861529
rs1435861529
PHF3 ; EYS
1 6 63762538 missense variant C/T snv 2.1E-05 0.700 0
dbSNP: rs143994166
rs143994166
EYS
2 1.000 0.080 6 65402507 stop gained A/T snv 6.8E-04 6.2E-04 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: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
dbSNP: rs1553193813
rs1553193813
ABCA4
2 1.000 0.080 1 94077747 stop gained C/T snv 0.700 0
dbSNP: rs1553249226
rs1553249226
CRB1
1 1 197328605 missense variant G/A snv 0.700 0
dbSNP: rs1553403585
rs1553403585
ALMS1
1 2 73449482 frameshift variant -/CTATTCTGGACTG ins 0.700 0
dbSNP: rs1553512879
rs1553512879
CERKL
1 2 181544799 splice region variant G/C snv 0.700 0
dbSNP: rs1553711564
rs1553711564
IQCB1
1 3 121788283 splice donor variant C/T snv 0.700 0
dbSNP: rs1554186385
rs1554186385
GUCA1A
1 6 42178410 missense variant A/C snv 0.700 0
dbSNP: rs1554214453
rs1554214453
EYS
1 6 64886713 stop gained A/T snv 0.700 0
dbSNP: rs1554269053
rs1554269053
PRPH2
2 1.000 0.080 6 42704529 missense variant A/G snv 0.700 0
dbSNP: rs1554628460
rs1554628460
KCNV2
1 9 2717843 frameshift variant -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC delins 0.700 0
dbSNP: rs1554857529
rs1554857529
CDHR1
1 10 84211128 missense variant A/G snv 0.700 0
dbSNP: rs1554998040
rs1554998040
CABP4
1 11 67458613 splice acceptor variant TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAG/- del 0.700 0