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: rs1800574
rs1800574
2 0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02 0.850 0.857 2 2004 2018
dbSNP: rs12427353
rs12427353
2 1.000 0.080 12 120989098 intron variant G/A;C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs137853240
rs137853240
1 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.800 0.917 0 2000 2011
dbSNP: rs1169288
rs1169288
11 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.780 1.000 1 2006 2018
dbSNP: rs1169299
rs1169299
4 1.000 0.080 12 120991391 intron variant T/C snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs137853236
rs137853236
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1555212014
rs1555212014
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs754729248
rs754729248
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0