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: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.070 0.714 7 2001 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.060 0.667 6 2001 2019
dbSNP: rs1175543
rs1175543
5 0.851 0.120 3 12424934 intron variant A/G snv 0.28 0.010 < 0.001 1 2018 2018
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs12631819
rs12631819
1 3 12301362 intron variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs12633551
rs12633551
2 3 12318995 intron variant C/T snv 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs2972164
rs2972164
3 0.925 0.080 3 12292917 intron variant T/C snv 0.46 0.010 < 0.001 1 2018 2018
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs6802898
rs6802898
1 3 12349708 intron variant C/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs9817428
rs9817428
3 0.925 0.120 3 12298768 intron variant C/A snv 0.31 0.010 1.000 1 2018 2018