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: rs2294008
rs2294008
15 0.724 0.179 8 142680513 5 prime UTR variant C/T snp 0.46 0.45 0.830 1.000 3 2012 2015
dbSNP: rs505922
rs505922
24 0.724 0.357 None NA snp 0.37 0.810 1.000 1 2012 2012
dbSNP: rs10105842
rs10105842
1 1.000 0.036 8 142590254 intergenic variant C/T snp 0.16 0.700 1 2012 2012
dbSNP: rs1036385
rs1036385
1 1.000 0.036 8 142761483 intergenic variant T/C,G snp 0.38 0.700 1 2012 2012
dbSNP: rs1045574
rs1045574
1 1.000 0.036 8 142682540 3 prime UTR variant G/A snp 0.46 0.44 0.700 1 2012 2012
dbSNP: rs12155758
rs12155758
3 0.878 0.071 8 142684467 intergenic variant G/A snp 0.24 0.700 1 2012 2012
dbSNP: rs16896391
rs16896391
EYS
1 1.000 0.036 6 65196105 intron variant T/C snp 0.22 0.700 1 2012 2012
dbSNP: rs2164308
rs2164308
1 1.000 0.036 8 142704241 3 prime UTR variant C/T snp 0.49 0.700 1 2012 2012
dbSNP: rs2244163
rs2244163
1 1.000 0.036 8 142703082 3 prime UTR variant T/G snp 0.42 0.42 0.700 1 2012 2012
dbSNP: rs2572904
rs2572904
1 1.000 0.036 8 142710775 intron variant A/C snp 0.49 0.700 1 2012 2012
dbSNP: rs2572925
rs2572925
1 1.000 0.036 8 142786489 missense variant C/G,T snp 0.36 0.40 0.700 1 2012 2012
dbSNP: rs2585140
rs2585140
1 1.000 0.036 8 142725478 intron variant A/G snp 0.50 0.700 1 2012 2012
dbSNP: rs28473387
rs28473387
1 1.000 0.036 8 142626112 intergenic variant T/C snp 0.63; 3.2E-05 0.700 1 2012 2012
dbSNP: rs2920283
rs2920283
1 1.000 0.036 8 142675619 intron variant T/C snp 0.45 0.700 1 2012 2012
dbSNP: rs2920297
rs2920297
1 1.000 0.036 8 142681665 3 prime UTR variant A/G snp 0.45 0.700 1 2012 2012
dbSNP: rs657152
rs657152
19 0.821 0.214 None NA snp 0.41 0.700 1 2012 2012
dbSNP: rs7046863
rs7046863
1 1.000 0.036 9 133246054 intergenic variant T/C snp 0.28 0.700 1 2012 2012
dbSNP: rs7775478
rs7775478
EYS
1 1.000 0.036 6 65151300 intron variant G/T snp 0.25 0.700 1 2012 2012
dbSNP: rs7855466
rs7855466
4 0.923 0.071 9 133245916 intergenic variant C/T snp 0.24 0.700 1 2012 2012
dbSNP: rs9324593
rs9324593
1 1.000 0.036 8 142605634 intergenic variant A/G snp 0.18 0.700 1 2012 2012
dbSNP: rs9411471
rs9411471
3 1.000 0.036 9 133244704 intergenic variant G/A snp 0.28 0.700 1 2012 2012
dbSNP: rs975618
rs975618
EYS
1 1.000 0.036 6 65114686 intron variant G/A snp 0.26 0.700 1 2012 2012
dbSNP: rs9919007
rs9919007
3 1.000 0.036 9 133244140 intergenic variant C/T snp 0.28 0.700 1 2012 2012
dbSNP: rs10434
rs10434
8 0.769 0.286 6 43785475 3 prime UTR variant A/G snp 0.59 0.010 1.000 1 2009 2009
dbSNP: rs11558538
rs11558538
14 0.724 0.321 2 138002079 missense variant C/T snp 1.0E-01 8.8E-02 0.010 1.000 1 2008 2008