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 2008 2008
dbSNP: rs1452020002
rs1452020002
ERBB4
1 1.000 0.080 2 211947467 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2008 2008
dbSNP: rs4872077
rs4872077
TNFRSF10A
1 1.000 0.080 8 23200675 intron variant T/A;C snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121913247
rs121913247
MET
3 0.882 0.200 7 116783359 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2017 2017
dbSNP: rs397517096
rs397517096
EGFR
4 0.851 0.120 7 55174776 missense variant TT/CC mnv 0.010 1.000 1 2015 2015