Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1057519828
EGFR
7 55143387 missense variant G/A snv 1
rs1057519829
EGFR
7 55154050 missense variant A/C;G snv 4.0E-06 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs11568821
LOC105373977 ; PDCD1
0.827 0.200 2 241851760 intron variant C/G;T snv 1
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
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
rs397516813
RAF1
0.925 0.160 3 12599717 missense variant C/G snv 2
rs371409680
TP53
0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 2
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
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
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 4