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: rs10073892
rs10073892
1 5 102391066 non coding transcript exon variant T/C snv 0.24 0.21 0.700 1.000 1 2014 2014
dbSNP: rs10512015
rs10512015
1 9 73166330 intron variant T/C snv 9.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs16885997
rs16885997
1 8 114496877 intergenic variant G/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs17641411
rs17641411
1 4 46941670 intron variant C/T snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs2973488
rs2973488
1 5 11043805 intron variant A/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs73643144
rs73643144
TEK
1 9 27126454 intron variant T/C snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs7700443
rs7700443
1 5 85876294 intergenic variant T/G snv 0.57 0.700 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2007 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2011 2011
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 1.000 8 2006 2020
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2018 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 1.000 7 2006 2020
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2008 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2008 2019
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.710 1.000 2 2017 2019
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 1.000 2 2012 2015
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.800 1.000 1 2014 2014
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2020 2020
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2011 2011
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: rs57095329
rs57095329
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.710 1.000 2 2012 2019