Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517840
rs1057517840
TP53
0.925 0.200 17 7674904 frameshift variant CT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057517983
rs1057517983
TP53
1.000 0.120 17 7674232 missense variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1057519981
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057519988
rs1057519988
TP53
0.776 0.240 17 7673812 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057519995
rs1057519995
TP53
0.807 0.240 17 7674200 missense variant T/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057519997
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057520002
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057522275
rs1057522275
TP53
17 7674246 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057523347
rs1057523347
TP53
0.925 0.160 17 7673789 stop gained A/G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1060501194
rs1060501194
TP53
1.000 0.120 17 7673830 frameshift variant G/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1060501197
rs1060501197
TP53
1.000 0.120 17 7674247 frameshift variant T/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1060501199
rs1060501199
TP53
1.000 0.120 17 7673577 missense variant C/A;T snv
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.700 0
dbSNP: rs1060501207
rs1060501207
TP53
1.000 0.120 17 7673839 splice acceptor variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1060501212
rs1060501212
TP53
1.000 0.120 17 7674973 splice acceptor variant TAA/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1064792930
rs1064792930
TP53
1.000 0.120 17 7675152 frameshift variant CGGGCGGGGGTGT/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1064793881
rs1064793881
TP53
0.925 0.120 17 7673784 missense variant C/T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 0
dbSNP: rs1064793881
rs1064793881
TP53
0.925 0.120 17 7673784 missense variant C/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1064793929
rs1064793929
TP53
0.882 0.280 17 7675167 frameshift variant A/-;AA delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1064794309
rs1064794309
TP53
1.000 0.120 17 7674197 inframe deletion ATG/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1064796722
rs1064796722
TP53
1.000 0.120 17 7676043 missense variant A/C;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0