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 0.900 0.902 122 1997 2018
dbSNP: rs1899951
rs1899951
5 0.851 0.160 3 12353341 intron variant C/T snv 0.26 0.800 1.000 2 2012 2018
dbSNP: rs11709077
rs11709077
3 0.925 0.120 3 12295008 intron variant G/A snv 8.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs17036160
rs17036160
1 1.000 0.080 3 12288284 intron variant C/T snv 8.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs3963364
rs3963364
1 1.000 0.080 3 12343858 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4684848
rs4684848
1 1.000 0.080 3 12354146 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs71304101
rs71304101
1 1.000 0.080 3 12355414 intron variant G/A snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs1553638903
rs1553638903
1 1.000 0.080 3 12349804 intron variant A/G snv 0.700 0
dbSNP: rs1553638909
rs1553638909
1 1.000 0.080 3 12349824 intron variant A/T snv 0.700 0
dbSNP: rs948820149
rs948820149
1 1.000 0.080 3 12350786 intron variant A/C;G snv 7.0E-06 0.700 0
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.893 103 1997 2018
dbSNP: rs777334819
rs777334819
2 0.925 0.120 3 12379856 missense variant G/A snv 3.6E-05 2.1E-05 0.080 0.875 8 2004 2009
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.050 1.000 5 2004 2017
dbSNP: rs11715073
rs11715073
2 0.925 0.120 3 12311472 intron variant C/G snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12629293
rs12629293
1 1.000 0.080 3 12310247 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs12636454
rs12636454
1 1.000 0.080 3 12318715 intron variant T/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs17036314
rs17036314
1 1.000 0.080 3 12335246 intron variant G/C snv 0.25 0.010 1.000 1 2008 2008
dbSNP: rs3892175
rs3892175
1 1.000 0.080 3 12326539 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs9817428
rs9817428
3 0.925 0.120 3 12298768 intron variant C/A snv 0.31 0.010 1.000 1 2013 2013