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: rs57221529
rs57221529 		1 1.000 0.120 5 586509 regulatory region variant A/G snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs5952223
rs5952223 		1 1.000 0.120 X 116255308 intergenic variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs7879546
rs7879546 		1 1.000 0.120 X 116217020 intergenic variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs871799
rs871799 		1 1.000 0.120 1 203200743 intergenic variant C/G snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs61750120
rs61750120
ABCA4
4 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs779426136
rs779426136
ABCA4
2 0.925 0.120 1 94041346 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs504348
rs504348
ABCC1 ; LOC107984869
1 1.000 0.120 16 15949317 upstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2013 2013
dbSNP: rs373533
rs373533
ADGRE1 ; LOC105372256
2 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 0.010 1.000 1 2013 2013
dbSNP: rs9300298
rs9300298
ADIPOR2
1 1.000 0.120 12 1757038 intron variant T/A snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 1.000 2 2012 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2011 2012
dbSNP: rs1124
rs1124
BMP1 ; SFTPC
3 0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1078761
rs1078761
BPIFB1
2 1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 0.010 1.000 1 2015 2015
dbSNP: rs80357113
rs80357113
BRCA1
2 0.925 0.200 17 43094281 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs747607158
rs747607158
CFI
1 1.000 0.120 4 109740999 missense variant T/C snv 0.010 < 0.001 1 1991 1991
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.900 0.980 99 1990 2020
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.900 0.985 66 1992 2019
dbSNP: rs80034486
rs80034486
CFTR
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.900 0.966 59 1990 2019
dbSNP: rs75549581
rs75549581
CFTR
2 0.925 0.160 7 117587829 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.810 1.000 53 1990 2015
dbSNP: rs201124247
rs201124247
CFTR
3 0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05 0.800 1.000 51 1990 2016
dbSNP: rs397508464
rs397508464
CFTR
4 0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06 0.800 1.000 47 1990 2015
dbSNP: rs121908755
rs121908755
CFTR
3 0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05 0.830 0.978 46 1990 2016