Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs587777894
MTOR
0.776 0.240 1 11124516 missense variant G/A;T snv 9
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 1
rs483352697
TP53
0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 17
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv 9
rs28934874
TP53
0.695 0.480 17 7675161 missense variant G/A;C;T snv 21
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 24
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 3
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 3
rs267600971
CYP21A2 ; STK19 ; DXO
0.882 0.080 6 31972346 missense variant G/A snv 2
rs267599211
CNOT9
0.882 0.080 2 218584683 missense variant C/T snv 1
rs193920774
TP53
0.695 0.440 17 7673823 missense variant C/A;T snv 21
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 2