Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519828
EGFR
7 55143387 missense variant G/A snv 1
rs1057519829
EGFR
7 55154050 missense variant A/C;G snv 4.0E-06 1
rs1057519887
EGFR
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 3
rs769696078
EGFR
0.925 0.040 7 55154128 missense variant G/A snv 3
rs1057519888
EGFR
0.925 0.080 7 55143386 missense variant A/G snv 3
rs113994088
ALK
0.925 0.080 2 29222584 missense variant C/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
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
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv 5
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs1057519906
IDH2
0.882 0.120 15 90088607 missense variant T/A;C snv 5
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 4
rs113994089
ALK
0.925 0.120 2 29220776 missense variant C/G;T snv 3
rs371409680
TP53
0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 2
rs80359183
BRCA2
0.882 0.120 13 32380096 stop gained T/A;C snv 1
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs397516813
RAF1
0.925 0.160 3 12599717 missense variant C/G snv 2
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1057519937
PIK3CA
0.776 0.200 3 179234285 missense variant T/C snv 11
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 5
rs11568821
LOC105373977 ; PDCD1
0.827 0.200 2 241851760 intron variant C/G;T snv 1