Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 1
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 1
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 8
rs1057519738
MIR4728 ; ERBB2
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 7
rs1057519962
SMAD4
0.827 0.160 18 51067035 missense variant G/A;T snv 6
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1057519937
PIK3CA
0.776 0.200 3 179234285 missense variant T/C snv 11
rs587782177
TP53
0.763 0.200 17 7674887 missense variant C/A;G;T snv 11
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 1
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 17
rs967461896
TP53
0.724 0.240 17 7675086 missense variant A/C;G;T snv 16
rs587781991
TP53
0.724 0.240 17 7675208 missense variant C/A;T snv 14
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs587782289
TP53
0.752 0.240 17 7674257 missense variant A/C;G;T snv 12
rs765848205
TP53
0.763 0.240 17 7674253 missense variant A/C;G;T snv 12
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv 11
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 11
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11