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: rs1329428
rs1329428
CFH
9 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.030 1.000 3 2014 2016
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 0.500 2 2016 2018
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2016 2016
dbSNP: rs11865049
rs11865049
SLC7A5
1 1.000 0.040 16 87840534 intron variant G/A snv 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2284664
rs2284664
CFH
3 0.925 0.040 1 196733395 intron variant C/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs61758735
rs61758735
PTPRB ; LOC105369828
1 1.000 0.040 12 70555234 missense variant G/A;T snv 5.8E-03; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs776983648
rs776983648
PGR ; PGR-AS1
1 1.000 0.040 11 101127885 missense variant C/A;G snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs779747527
rs779747527
ESR1
1 1.000 0.040 6 151944292 frameshift variant AGCCC/- del 0.010 1.000 1 2019 2019