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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs12938
rs12938
5 0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs1048971
rs1048971
CR2
4 0.851 0.160 1 207472977 synonymous variant G/A;T snv 0.34; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs17615
rs17615
CR2
5 0.827 0.200 1 207473117 missense variant G/A snv 0.26 0.31 0.010 1.000 1 2007 2007
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs370504038
rs370504038
4 0.851 0.160 3 48467569 missense variant A/G snv 1.2E-04 1.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs72556554
rs72556554
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs3813946
rs3813946
CR2
5 0.827 0.280 1 207454348 5 prime UTR variant T/C snv 0.16 0.020 1.000 2 2007 2012
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2012 2012
dbSNP: rs1206255976
rs1206255976
4 0.851 0.160 1 22637618 start lost T/G snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1270942
rs1270942
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs2070197
rs2070197
6 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs3131379
rs3131379
10 0.752 0.440 6 31753256 intron variant G/A snv 6.4E-02 7.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs10489265
rs10489265
5 0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs13023380
rs13023380
4 0.851 0.160 2 162297853 intron variant G/A snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2008 2015
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs121908117
rs121908117
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1341239
rs1341239
8 0.776 0.360 6 22303975 intron variant A/C snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1678542
rs1678542
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs1980422
rs1980422
9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015