Source: ALL
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: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.040 1.000 4 2013 2019
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.040 1.000 4 2016 2019
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 1.000 2 2014 2018
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs114254831
rs114254831
PBX2
5 0.827 0.040 6 32187804 intron variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs116503776
rs116503776
CYP21A2 ; SKIV2L
5 0.827 0.040 6 31962685 intron variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs393955
rs393955
CFH
2 0.925 0.040 1 196723340 intron variant C/A snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs943080
rs943080
LOC107986598
6 0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 0.010 1.000 1 2019 2019