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: rs2435211
rs2435211
1 17 45985878 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs267606900
rs267606900
2 1.000 10 30313926 missense variant T/C snv 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs587778556
rs587778556
2 2 177231705 missense variant G/A snv 3.2E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs755135182
rs755135182
2 2 177231657 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs80356740
rs80356740
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs1264519280
rs1264519280
2 1.000 0.040 1 32014083 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1428103360
rs1428103360
2 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs371557337
rs371557337
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3857059
rs3857059
2 1.000 0.040 4 89754087 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs397515634
rs397515634
3 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs755221106
rs755221106
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2002 2014
dbSNP: rs104893922
rs104893922
3 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs119467003
rs119467003
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs121912432
rs121912432
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1265011107
rs1265011107
3 1.000 0.080 1 27283372 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1360444859
rs1360444859
2 1.000 0.080 16 1791721 missense variant T/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs143061887
rs143061887
3 0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1481950
rs1481950
2 1.000 0.080 8 53777725 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs149215094
rs149215094
2 1.000 0.080 20 58444203 missense variant G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs2275294
rs2275294
3 0.925 0.080 20 63962894 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2435200
rs2435200
5 0.925 0.080 17 45994485 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs398122403
rs398122403
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs431905511
rs431905511
9 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs537742207
rs537742207
3 1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019