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: rs1135840
rs1135840
CYP2D6 ; NDUFA6-DT
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.030 1.000 3 2017 2019
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1080985
rs1080985
CYP2D6 ; NDUFA6-DT ; LOC112268294
2 0.925 0.080 22 42132375 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs16947
rs16947
CYP2D6 ; NDUFA6-DT
5 0.882 0.040 22 42127941 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2015 2015