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: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2013 2014
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs11200638
rs11200638
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs1177783734
rs1177783734
4 0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121434491
rs121434491
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121908150
rs121908150
5 0.851 0.080 1 247424227 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2015 2015
dbSNP: rs1438303929
rs1438303929
1 3 193647145 missense variant G/A snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs17822656
rs17822656
1 3 102470325 intron variant T/C snv 9.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs756535079
rs756535079
1 16 89544732 missense variant G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs763544450
rs763544450
ERG
4 1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017