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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 0.750 4 2015 2020
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2019 2020
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2013 2019
dbSNP: rs6695096
rs6695096
1 1.000 0.040 1 11034982 intron variant C/A;T snv 0.020 1.000 2 2014 2015
dbSNP: rs1052632
rs1052632
MR1
2 0.925 0.080 1 181051094 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1061624
rs1061624
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10911362
rs10911362
1 1.000 0.040 1 183579857 intron variant A/G snv 0.12 0.010 1.000 1 2020 2020
dbSNP: rs1101998
rs1101998
1 1.000 0.040 1 159029494 intron variant C/T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs1344800847
rs1344800847
CR1
2 0.925 0.120 1 207569911 missense variant G/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1633256
rs1633256
1 1.000 0.040 1 159032767 intron variant A/G snv 0.70 0.010 1.000 1 2020 2020
dbSNP: rs1925714
rs1925714
1 1.000 0.040 1 228515588 upstream gene variant A/G snv 0.81 0.800 1.000 1 2014 2014
dbSNP: rs2229238
rs2229238
5 0.851 0.080 1 154465420 3 prime UTR variant T/A;C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs2273346
rs2273346
1 1.000 0.040 1 11030840 missense variant A/G snv 5.0E-02 5.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs3024498
rs3024498
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs3397
rs3397
1 1.000 0.040 1 12207235 3 prime UTR variant C/T snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs3738467
rs3738467
CR1
2 0.925 0.120 1 207552816 missense variant G/T snv 1.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs411089
rs411089
1 1.000 0.040 1 158255035 intron variant C/T snv 0.39 0.43 0.010 1.000 1 2014 2014
dbSNP: rs4240897
rs4240897
1 1.000 0.040 1 11982698 intron variant G/A snv 0.43 0.710 1.000 1 2017 2017
dbSNP: rs6676375
rs6676375
1 1.000 0.040 1 242711583 intergenic variant T/C snv 0.15 0.800 1.000 1 2014 2014
dbSNP: rs751273816
rs751273816
1 1.000 0.040 1 47373057 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs932347
rs932347
1 1.000 0.040 1 209882285 intergenic variant C/T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.100 1.000 13 2002 2015