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: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.500 4 2012 2017
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 0.500 2 2012 2017
dbSNP: rs1805388
rs1805388
11 0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 0.020 0.500 2 2013 2015
dbSNP: rs2065134
rs2065134
1 1.000 0.040 14 22788980 intron variant T/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs2075685
rs2075685
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 0.500 2 2015 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 0.571 7 2008 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 0.571 7 2008 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 0.625 8 2008 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2013 2018
dbSNP: rs1805377
rs1805377
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.030 0.667 3 2013 2017
dbSNP: rs730437
rs730437
2 0.925 0.120 7 55147325 intron variant A/C snv 0.51 0.040 0.750 4 2012 2017
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.050 0.800 5 2016 2020
dbSNP: rs2252586
rs2252586
5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.860 0.833 6 2011 2017
dbSNP: rs3212986
rs3212986
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.070 0.857 7 2014 2017
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.900 0.875 16 2009 2020
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.080 0.875 8 2012 2017
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.900 0.889 18 2009 2020
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.090 0.889 9 2012 2017
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 0.929 14 2010 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.933 15 2010 2017
dbSNP: rs498872
rs498872
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.900 0.941 17 2009 2020
dbSNP: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.900 0.952 21 2009 2020
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 49 2009 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 19 2011 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 18 2011 2020