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 2013 2013
dbSNP: rs1059046
rs1059046
SFTPA2
3 0.882 0.120 10 79559458 missense variant G/C;T snv 2.2E-05; 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2606345
rs2606345
CYP1A1
16 0.732 0.360 15 74724835 intron variant C/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2013 2013