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: rs1401818080
rs1401818080
1 8 43197027 splice region variant -/A delins 4.0E-06; 1.2E-05 1.4E-05 0.700 1.000 1 2009 2009
dbSNP: rs543698823
rs543698823
4 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 0.700 1.000 1 2009 2009
dbSNP: rs878853366
rs878853366
1 1 197344433 frameshift variant -/A delins 0.700 0
dbSNP: rs878853389
rs878853389
1 14 21326071 frameshift variant -/A ins 0.700 0
dbSNP: rs1553192432
rs1553192432
1 1 94060712 frameshift variant -/C delins 0.700 1.000 1 2013 2013
dbSNP: rs878853347
rs878853347
1 10 84196622 frameshift variant -/C delins 0.700 0
dbSNP: rs878853385
rs878853385
1 14 88431196 frameshift variant -/C delins 0.700 0
dbSNP: rs869312188
rs869312188
PHF3 ; EYS
1 6 63720752 frameshift variant -/CC delins 0.700 1.000 1 2016 2016
dbSNP: rs1553403585
rs1553403585
1 2 73449482 frameshift variant -/CTATTCTGGACTG ins 0.700 0
dbSNP: rs878853364
rs878853364
1 1 197421440 frameshift variant -/CTTA ins 0.700 0
dbSNP: rs1553263218
rs1553263218
1 1 197435404 frameshift variant -/G delins 0.700 1.000 1 2007 2007
dbSNP: rs1554824273
rs1554824273
RGR
1 10 84258712 3 prime UTR variant -/G delins 0.700 1.000 1 1999 1999
dbSNP: rs1554628460
rs1554628460
1 9 2717843 frameshift variant -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC delins 0.700 0
dbSNP: rs768660614
rs768660614
1 3 101320304 frameshift variant -/T delins 4.0E-06 0.700 0
dbSNP: rs748531024
rs748531024
2 1.000 0.080 21 44339161 frameshift variant -/TGCACGCTGTGCAGCT ins 4.4E-05; 2.2E-05 7.7E-05 0.700 0
dbSNP: rs767295178
rs767295178
1 3 121770503 frameshift variant -/TGCCACA delins 2.4E-05 7.0E-06 0.700 0
dbSNP: rs1555302200
rs1555302200
4 0.925 0.120 14 21326029 frameshift variant -/TT delins 0.700 0
dbSNP: rs1057518939
rs1057518939
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs1555792415
rs1555792415
1 19 54122531 frameshift variant A/- delins 0.700 0
dbSNP: rs878853410
rs878853410
3 0.925 0.200 1 216321969 frameshift variant A/- del 0.700 0
dbSNP: rs398123575
rs398123575
EYS
2 1.000 0.080 6 63864319 stop gained A/C snv 1.9E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1554186385
rs1554186385
1 6 42178410 missense variant A/C snv 0.700 0
dbSNP: rs2723341
rs2723341
8 0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 0.700 0
dbSNP: rs773233587
rs773233587
1 1 197421540 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs1553186896
rs1553186896
2 1.000 1 94005490 missense variant A/C;G snv 0.700 1.000 1 2012 2012