Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 4
rs113994088
ALK
0.925 0.080 2 29222584 missense variant C/G snv 3
rs113994089
ALK
0.925 0.120 2 29220776 missense variant C/G;T snv 3
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 1
rs80359183
BRCA2
0.882 0.120 13 32380096 stop gained T/A;C snv 1
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs1057519887
EGFR
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 3
rs1057519888
EGFR
0.925 0.080 7 55143386 missense variant A/G snv 3
rs139236063
EGFR
0.925 0.080 7 55165350 missense variant G/C;T snv 3
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv 3
rs769696078
EGFR
0.925 0.040 7 55154128 missense variant G/A snv 3
rs1057519828
EGFR
7 55143387 missense variant G/A snv 1
rs1057519829
EGFR
7 55154050 missense variant A/C;G snv 4.0E-06 1
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 7
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 2
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv 2
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16