Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727504504
CBL
1.000 0.160 11 119278169 missense variant C/A snv 1
rs727505093 1.000 0.160 2 39014838 missense variant A/C snv 1
rs730881003 1.000 0.160 3 12585794 missense variant A/G snv 1
rs869025190 1.000 0.160 1 155910462 missense variant C/A snv 1
rs869025192 1.000 0.160 1 155904499 missense variant C/G snv 1
rs869025196 1.000 0.160 1 155904489 missense variant G/A snv 7.0E-06 1
rs397517076
CBL
0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 3
rs397517174 0.925 0.160 2 39054822 missense variant A/C;G snv 3
rs104894364 0.925 0.160 12 25227351 missense variant G/A snv 2
rs180177036 0.925 0.200 7 140778053 missense variant C/A;G snv 2
rs193929331 0.925 0.160 12 25245372 missense variant T/C snv 2
rs267607080 0.925 0.160 2 39023134 missense variant A/G snv 2
rs397507504 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 2
rs397507512 0.925 0.160 12 112450391 missense variant T/C;G snv 2
rs397507518 0.925 0.160 12 112450508 missense variant G/A snv 2
rs397516801 0.925 0.160 12 112450389 missense variant A/G snv 2
rs397516810 0.925 0.160 12 112477652 missense variant T/G snv 2
rs397516813 0.925 0.160 3 12599717 missense variant C/G snv 2
rs397516828 0.925 0.160 3 12604188 missense variant G/A;C snv 2
rs397516903 0.925 0.200 7 140801533 missense variant A/C;G snv 2
rs397516904 0.925 0.200 7 140801487 missense variant T/C;G snv 2
rs397517042 0.925 0.200 12 25209896 missense variant A/C;T snv 2
rs397517172 0.925 0.160 2 39056704 missense variant T/C snv 2
rs727502904 0.925 0.200 7 140734763 missense variant G/A;T snv 2
rs727503380 0.925 0.160 12 112450386 missense variant A/T snv 2