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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
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 2015 2015
dbSNP: rs1690916
rs1690916
MDM2
4 0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs754854286
rs754854286
ZEB1
3 1.000 0.120 10 31520432 missense variant G/C snv 0.010 1.000 1 2019 2019