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: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913438
rs121913438
EGFR
1 1.000 0.040 7 55174777 inframe deletion TAAGAGAAGCAACATCTC/- del 0.010 1.000 1 2018 2018
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2019 2019
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2018 2018