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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.955 22 2001 2014
dbSNP: rs1175543
rs1175543
5 0.851 0.120 3 12424934 intron variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1797912
rs1797912
3 1.000 0.040 3 12428740 intron variant A/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs368726572
rs368726572
1 1.000 0.040 3 12392637 synonymous variant A/G snv 4.0E-06 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs772234905
rs772234905
1 1.000 0.040 3 12379761 missense variant C/G;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs13306747
rs13306747
6 0.807 0.200 3 12416775 synonymous variant C/A;G;T snv 8.0E-06; 4.2E-03; 7.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.100 0.960 25 2001 2018
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.060 1.000 6 2005 2015