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: rs1187120
rs1187120
3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2013 2013
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2018 2018
dbSNP: rs1143684
rs1143684
4 0.882 0.160 6 3010156 missense variant C/T snv 0.79 0.84 0.010 1.000 1 2010 2010
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2018 2018
dbSNP: rs1625579
rs1625579
11 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs7157599
rs7157599
3 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.010 1.000 1 2015 2015
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs11030108
rs11030108
2 1.000 0.040 11 27673917 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs2303579
rs2303579
2 0.925 0.040 15 55860531 missense variant T/C snv 0.74 0.72 0.010 1.000 1 2019 2019
dbSNP: rs8193036
rs8193036
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2016 2016
dbSNP: rs541458
rs541458
4 0.851 0.080 11 86077309 regulatory region variant C/T snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs4646
rs4646
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2009 2009
dbSNP: rs3851179
rs3851179
13 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1256065
rs1256065
3 0.925 0.120 14 64232214 3 prime UTR variant G/T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs9951307
rs9951307
5 0.882 0.120 18 26850565 intron variant G/A snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs1061170
rs1061170
CFH
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2011 2011
dbSNP: rs469083
rs469083
MX1
2 1.000 0.040 21 41436789 intron variant C/T snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs405509
rs405509
22 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.020 1.000 2 2016 2019
dbSNP: rs363050
rs363050
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs11136000
rs11136000
CLU
17 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.020 1.000 2 2013 2018
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2018 2018