Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555138291
ATM ; C11orf65
0.925 0.240 11 108345859 stop gained G/A snv 2
rs76151636
ATP7B
0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 1
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
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1135401891
BRCA2
0.790 0.280 13 32332796 frameshift variant -/CT ins 1
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1558650888
DNMT3A
0.925 0.040 2 25234308 missense variant G/A snv 2
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv 4
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
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;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
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv 3
rs769696078
EGFR
0.925 0.040 7 55154128 missense variant G/A snv 3
rs63750949
FBXO11 ; MSH6
0.827 0.080 2 47806213 missense variant C/A;T snv 1
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
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 7
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 6
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4