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: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1008438
rs1008438
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10116277
rs10116277
8 0.827 0.160 9 22081398 intron variant G/T snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs10118757
rs10118757
7 0.827 0.120 9 21853340 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs10159239
rs10159239
3 0.882 0.040 1 247443750 intron variant G/A snv 0.57 0.010 1.000 1 2020 2020
dbSNP: rs10235849
rs10235849
1 1.000 0.040 7 35255752 upstream gene variant T/A snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1035071612
rs1035071612
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs10399931
rs10399931
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2006 2006
dbSNP: rs1042031
rs1042031
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs10420321
rs10420321
2 0.925 0.080 19 10189741 intron variant A/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1042620356
rs1042620356
1 1.000 0.040 10 104259596 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1043618
rs1043618
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1044250
rs1044250
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 < 0.001 1 2010 2010
dbSNP: rs1044925
rs1044925
6 0.827 0.120 1 179354603 3 prime UTR variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs104893904
rs104893904
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs104894654
rs104894654
2 0.925 0.080 18 34794250 missense variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs1048990
rs1048990
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1049007
rs1049007
1 1.000 0.040 20 6770387 synonymous variant A/C;G snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs1049255
rs1049255
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2012 2012
dbSNP: rs1049673
rs1049673
7 0.807 0.160 7 80677034 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10509681
rs10509681
8 0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1050993
rs1050993
MTR
1 1.000 0.040 1 236899005 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019