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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2011 2015
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2015 2015
dbSNP: rs116264669
rs116264669
1 15 74309203 intron variant G/A snv 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs12081070
rs12081070
1 1 64215092 intron variant G/A snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs17525495
rs17525495
4 0.882 0.080 12 96035599 5 prime UTR variant G/A snv 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs17611
rs17611
C5
14 0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36 0.010 1.000 1 2011 2011
dbSNP: rs2309554
rs2309554
1 4 181902651 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2017 2017
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2016 2017
dbSNP: rs3775290
rs3775290
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2017 2017
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2017 2017
dbSNP: rs3870369
rs3870369
2 1.000 0.080 6 153261855 intron variant T/G snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 < 0.001 1 2016 2016
dbSNP: rs72739603
rs72739603
1 9 37382234 downstream gene variant G/A snv 6.7E-02 0.700 1.000 1 2019 2019