Source: CLINVAR ×
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: rs121913433
rs121913433
EGFR
1 1.000 0.040 7 55174771 missense variant A/G snv 0.700 1.000 3 2010 2014
dbSNP: rs1057519887
rs1057519887
EGFR
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs769696078
rs769696078
EGFR
3 0.925 0.040 7 55154128 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121909237
rs121909237
PTEN
1 1.000 0.040 10 87933121 missense variant C/G snv 0.800 1.000 0 2002 2002
dbSNP: rs121909250
rs121909250
ING1
1 1.000 0.040 13 110719736 missense variant G/C snv 0.700 0
dbSNP: rs121909251
rs121909251
ING1
1 1.000 0.040 13 110719739 missense variant A/G snv 0.700 0
dbSNP: rs121909252
rs121909252
ING1
1 1.000 0.040 13 110719667 missense variant C/A snv 0.700 0
dbSNP: rs1057519904
rs1057519904
H3C11
2 0.742 0.080 6 27872233 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519905
rs1057519905
H3C11
2 0.925 0.080 6 27872234 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519951
rs1057519951
RHOA
4 0.882 0.080 3 49375472 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs149840192
rs149840192
EGFR
3 0.807 0.080 7 55154129 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519874
rs1057519874
RAC1
4 0.807 0.120 7 6387261 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519948
rs1057519948
RAC1
4 0.851 0.120 7 6387262 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913386
rs121913386
CDKN2A
6 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1064793881
rs1064793881
TP53
3 0.925 0.120 17 7673784 missense variant C/T snv 0.700 0
dbSNP: rs1567549584
rs1567549584
TP53
2 0.925 0.120 17 7674245 missense variant T/C snv 0.700 0
dbSNP: rs397514495
rs397514495
TP53
4 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs104894104
rs104894104
CDKN2A
4 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
MAP2K2
4 0.851 0.160 19 4117551 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519911
rs1057519911
MAPK1
3 0.776 0.160 22 21772875 missense variant C/T snv 0.710 1.000 1 2015 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
7 0.790 0.160 2 177234232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519938
rs1057519938
PIK3CA
10 0.776 0.160 3 179203764 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
10 0.776 0.160 3 179203763 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
9 0.790 0.160 19 52212730 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519954
rs1057519954
RHOA
3 0.882 0.160 3 49375465 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016