Source: ALL
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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs2606345
rs2606345
CYP1A1
16 0.732 0.360 15 74724835 intron variant C/A snv 0.46 0.010 1.000 1 2009 2009
dbSNP: rs63750339
rs63750339
MLH1
5 0.925 0.200 3 37020441 frameshift variant C/- delins 0.010 1.000 1 2019 2019