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: rs10038095
rs10038095
3 5 75341886 intron variant A/T snv 0.38 0.800 1.000 4 2012 2019
dbSNP: rs1041968
rs1041968
6 2 21009932 synonymous variant G/A snv 0.39 0.38 0.800 1.000 4 2012 2019
dbSNP: rs10889353
rs10889353
5 1 62652525 intron variant A/C;T snv 0.800 1.000 4 2009 2019
dbSNP: rs11207995
rs11207995
4 1 62583880 intron variant A/C;G snv 0.800 1.000 4 2013 2019
dbSNP: rs11220462
rs11220462
3 11 126374057 intron variant G/A snv 0.12 0.800 1.000 4 2010 2018
dbSNP: rs1564348
rs1564348
3 6 160157828 intron variant T/C snv 0.14 0.800 1.000 4 2010 2019
dbSNP: rs2131925
rs2131925
6 1 62560271 intron variant G/T snv 0.57 0.800 1.000 4 2010 2019
dbSNP: rs2238675
rs2238675
4 19 19225799 intron variant C/T snv 9.4E-02 0.800 1.000 4 2012 2019
dbSNP: rs2255141
rs2255141
5 10 112174128 intron variant A/G;T snv 0.800 1.000 4 2010 2019
dbSNP: rs2297991
rs2297991
4 10 112153464 3 prime UTR variant T/C snv 0.69 0.700 1.000 4 2015 2019
dbSNP: rs2575876
rs2575876
7 9 104903458 intron variant G/A snv 0.24 0.800 1.000 4 2012 2018
dbSNP: rs2814982
rs2814982
2 6 34578783 upstream gene variant C/G;T snv 0.800 1.000 4 2010 2018
dbSNP: rs3757354
rs3757354
3 6 16127176 upstream gene variant C/T snv 0.27 0.800 1.000 4 2010 2018
dbSNP: rs7206971
rs7206971
3 17 47347749 intron variant G/A;T snv 0.47 0.800 1.000 4 2010 2018
dbSNP: rs7499892
rs7499892
7 16 56972678 intron variant C/G;T snv 0.800 1.000 4 2012 2019
dbSNP: rs10102164
rs10102164
RP1
4 8 54509054 upstream gene variant G/A snv 0.19 0.800 1.000 3 2013 2018
dbSNP: rs10128711
rs10128711
2 11 18611437 intron variant T/C snv 0.64 0.55 0.800 1.000 3 2010 2018
dbSNP: rs1065853
rs1065853
5 19 44909976 non coding transcript exon variant G/A;C;T snv 0.700 1.000 3 2017 2019
dbSNP: rs10903129
rs10903129
4 1 25442446 intron variant A/G snv 0.58 0.800 1.000 3 2009 2018
dbSNP: rs11136341
rs11136341
3 8 143969375 intron variant A/G snv 0.40 0.800 1.000 3 2010 2018
dbSNP: rs112374545
rs112374545
2 19 11078223 intron variant C/T snv 0.11 0.700 1.000 3 2015 2019
dbSNP: rs1129555
rs1129555
5 10 112150963 3 prime UTR variant A/G snv 0.71 0.700 1.000 3 2017 2019
dbSNP: rs12027135
rs12027135
3 1 25449242 intron variant A/T snv 0.50 0.800 1.000 3 2010 2018
dbSNP: rs12721054
rs12721054
3 19 44919330 3 prime UTR variant A/G snv 3.7E-02 0.800 1.000 3 2012 2019
dbSNP: rs2169387
rs2169387
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 3 2018 2019