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: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs17664
rs17664
ITGA6
4 0.882 0.120 2 172504503 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2675
rs2675
ITGB5
4 0.882 0.120 3 124763266 3 prime UTR variant T/G snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865
ITGB3 ; THCAT158
11 0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4402960
rs4402960
IGF2BP2
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs636832
rs636832
AGO1
8 0.790 0.400 1 35897874 intron variant G/A snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs7813
rs7813
GEMIN4
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.010 1.000 1 2017 2017