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: 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: 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: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.710 1.000 2 2012 2019
dbSNP: rs115881343
rs115881343
2 1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 0.710 1.000 1 2014 2014
dbSNP: rs769449
rs769449
11 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 0.710 1.000 1 2014 2014
dbSNP: rs1554950703
rs1554950703
2 1.000 0.200 10 122489463 missense variant C/G snv 0.700 1.000 6 2009 2016
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs267606959
rs267606959
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
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: rs312262717
rs312262717
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs7157599
rs7157599
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.700 1.000 1 2013 2013
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: rs1057518919
rs1057518919
5 0.851 0.120 14 73171023 missense variant T/G snv 0.700 0
dbSNP: rs146170087
rs146170087
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
dbSNP: rs148881970
rs148881970
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1555377415
rs1555377415
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs1555454508
rs1555454508
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1555939456
rs1555939456
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1557136818
rs1557136818
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0