Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs778561687
AKT2
0.851 0.080 19 40235953 missense variant C/A;T snv 4.0E-06; 4.0E-06 1
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 1
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
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
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 8
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 7
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv 6
rs397507466
BRAF
0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 6
rs397516895
BRAF
0.827 0.280 7 140753392 missense variant A/T snv 5
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv 1
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06 2
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs540635787
CHEK2
0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 4
rs397517097
EGFR
0.851 0.080 7 55174777 missense variant T/C snv 2