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: rs12732894
rs12732894
3 0.882 0.080 1 17582733 intron variant G/A snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1302103336
rs1302103336
12 0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs1330010954
rs1330010954
4 0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1465444723
rs1465444723
5 0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1476081557
rs1476081557
3 0.882 0.080 19 35721455 missense variant G/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs16901979
rs16901979
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs1760893
rs1760893
6 0.807 0.080 14 20412501 intron variant C/A snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2014 2014
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 2014 2014
dbSNP: rs187115
rs187115
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs20576
rs20576
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2241715
rs2241715
4 0.851 0.120 19 41350981 5 prime UTR variant A/C snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs2244444
rs2244444
3 0.882 0.080 1 17520426 intergenic variant C/T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs2296651
rs2296651
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs2299939
rs2299939
5 0.827 0.080 10 87897393 intron variant C/A;T snv 0.010 < 0.001 1 2015 2015