Source: BEFREE ×
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: rs1061170
rs1061170
CFH
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.050 1.000 5 2005 2011
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
15 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2017 2018
dbSNP: rs104893768
rs104893768
RHO
8 0.807 0.080 3 129528801 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs104894572
rs104894572
GALK1
2 1.000 0.120 17 75765055 missense variant G/A;T snv 8.9E-06 0.010 1.000 1 1999 1999
dbSNP: rs111699024
rs111699024
ATOH7
3 0.925 0.120 10 68231485 missense variant T/C;G snv 8.7E-03; 8.8E-06 0.010 1.000 1 2010 2010
dbSNP: rs1177783734
rs1177783734
ASAH1 ; LOC101929066
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: rs121909124
rs121909124
GUCA1B
1 1.000 6 42185686 missense variant C/T snv 1.0E-04 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs121918632
rs121918632
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.851 0.120 2 165996099 missense variant A/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs147394623
rs147394623
DHDDS
2 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.010 1.000 1 2017 2017
dbSNP: rs151045328
rs151045328
USH1C
2 0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs28936700
rs28936700
CYP1B1 ; CYP1B1-AS1
6 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs61750172
rs61750172
GUCY2D
7 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs62636299
rs62636299
RPE65
3 0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs62653011
rs62653011
RPE65
1 0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs751529077
rs751529077
MTUS1
1 8 17723780 missense variant G/A;T snv 7.7E-05 7.0E-06 0.010 1.000 1 1999 1999
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