Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 1
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519877
B2M ; PATL2
0.763 0.280 15 44711549 start lost G/A snv 10
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 1
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv 5
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 2
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 7
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv 1
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv 13
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35