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 1 2004 2018
dbSNP: rs12427353
rs12427353
1 1.000 0.080 12 120989098 intron variant G/A;C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs1169288
rs1169288
8 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