Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918470 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
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
rs397507517 0.827 0.160 12 112450497 missense variant A/C snv 8
rs397507539 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507540 0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs397517150 0.827 0.160 2 39023118 missense variant A/C;G 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
rs397516830 0.827 0.160 3 12604182 missense variant A/C;G;T snv 5
rs397507529 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 4
rs397507541 0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 4
rs121918469 0.882 0.160 12 112488454 missense variant G/C snv 3
rs267606921 0.882 0.160 1 114713941 missense variant G/A snv 3
rs397507523 0.882 0.160 12 112472954 missense variant A/G snv 3
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
rs672601335 0.882 0.160 1 155904456 missense variant C/G snv 3
rs727503110 0.882 0.160 12 25245320 missense variant T/A;C snv 3
rs80338799 0.882 0.160 3 12585745 missense variant G/A;C snv 3
rs876657651 0.882 0.160 15 66436818 missense variant A/G snv 3
rs104894364 0.925 0.160 12 25227351 missense variant G/A snv 2
rs193929331 0.925 0.160 12 25245372 missense variant T/C snv 2
rs267606920 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 2