Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs1057520036
FGFR4
0.925 0.080 5 177093180 missense variant A/G snv 1
rs1057519714
ESR1
6 152094402 missense variant T/C snv 1
rs1057519715
ESR1
1.000 0.080 6 152098779 missense variant T/A snv 1
rs1057519716
ESR1
6 152098782 missense variant C/A snv 1
rs1057519717
ESR1
6 152098785 missense variant T/G snv 1
rs1057519827
ESR1
6 152011697 missense variant G/C snv 1
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 1
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 2
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs1057519045
FGFR2
0.851 0.160 10 121498522 missense variant T/G snv 6
rs1057519854
FGFR2
0.882 0.080 10 121488063 missense variant A/T snv 5
rs1057519901
FGFR2
0.925 0.080 10 121498525 missense variant T/G snv 5
rs121913476
FGFR2
0.851 0.080 10 121498520 missense variant A/C;T snv 5
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins 4
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv 3
rs121913292
PTEN
1.000 0.080 10 87933148 frameshift variant G/- del 1
rs1554897879
PTEN
10 87931085 stop gained C/A snv 1