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: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs16896391
rs16896391
EYS
1 1.000 0.040 6 65196105 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs7775478
rs7775478
EYS
1 1.000 0.040 6 65151300 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs975618
rs975618
EYS
1 1.000 0.040 6 65114686 intron variant G/A snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.860 1.000 6 2012 2019
dbSNP: rs10105842
rs10105842
1 1.000 0.040 8 142590254 intergenic variant C/T snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1036385
rs1036385
1 1.000 0.040 8 142761483 upstream gene variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1045574
rs1045574
1 1.000 0.040 8 142682540 3 prime UTR variant G/A snv 0.46 0.44 0.700 1.000 1 2012 2012
dbSNP: rs12155758
rs12155758
3 0.882 0.080 8 142684467 upstream gene variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs138377917
rs138377917
5 0.827 0.160 8 142682113 stop gained G/A snv 2.1E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2164308
rs2164308
1 1.000 0.040 8 142704241 3 prime UTR variant C/T snv 0.49 0.700 1.000 1 2012 2012
dbSNP: rs2244163
rs2244163
1 1.000 0.040 8 142703082 3 prime UTR variant T/G snv 0.42 0.43 0.700 1.000 1 2012 2012
dbSNP: rs2572904
rs2572904
1 1.000 0.040 8 142710775 intron variant A/C snv 0.49 0.700 1.000 1 2012 2012
dbSNP: rs2572925
rs2572925
1 1.000 0.040 8 142786489 missense variant C/G;T snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs2585140
rs2585140
1 1.000 0.040 8 142725478 intron variant A/G snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs28473387
rs28473387
1 1.000 0.040 8 142626112 intergenic variant T/C snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs2920283
rs2920283
PSCA ; JRK
2 0.925 0.040 8 142675619 intron variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs2920297
rs2920297
PSCA ; JRK
1 1.000 0.040 8 142681665 3 prime UTR variant A/G snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs2976391
rs2976391
PSCA ; JRK
7 0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2019 2019
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs9324593
rs9324593
1 1.000 0.040 8 142605634 intergenic variant A/G snv 0.18 0.700 1.000 1 2012 2012