Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv 7
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs1057519923
NFE2L2
0.807 0.200 2 177234081 missense variant T/A snv 6
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs1057519950
RHEB
0.827 0.200 7 151490963 missense variant T/A;C snv 4
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs967461896
TP53
0.724 0.240 17 7675086 missense variant A/C;G;T snv 16
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs587781991
TP53
0.724 0.240 17 7675208 missense variant C/A;T snv 14
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv 11
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv 9
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv 8
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 8
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 8
rs786203071
TP53
0.776 0.240 17 7675181 missense variant T/A;G snv 8