Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs104894366 0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 9
rs397516827 0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs869025191 0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs121918458 0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs121918461 0.827 0.240 12 112450362 missense variant A/C;G;T snv 8
rs121918462 0.742 0.320 12 112450398 missense variant C/T snv 8
rs397507517 0.827 0.160 12 112450497 missense variant A/C snv 8
rs397507540 0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs397507542 0.790 0.320 12 112489069 missense variant G/T snv 8
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs387906660 0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs121913240 0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs121918463 0.851 0.240 12 112477651 missense variant T/A;C;G snv 6
rs397507506 0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs397507549 0.742 0.240 12 112489104 missense variant C/A;G snv 6
rs397517150 0.827 0.160 2 39023118 missense variant A/C;G snv 6
rs727504317 0.807 0.320 15 66435145 missense variant G/A snv 6
rs80338797 0.827 0.160 3 12584624 missense variant G/C;T snv 6
rs121434594 0.827 0.160 3 12604189 missense variant G/A;C;T snv 5
rs397507501 0.882 0.160 12 112446385 missense variant A/G snv 5
rs397507505 0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs397507509 0.807 0.240 12 112450359 missense variant G/C;T snv 5
rs397507510 0.776 0.280 12 112450361 missense variant G/A;C;T snv 5