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: rs1131691036
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691038
rs1131691038
TP53
17 7676043 frameshift variant A/TTGGG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691039
rs1131691039
TP53
0.851 0.240 17 7673700 splice donor variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1131691039
rs1131691039
TP53
0.851 0.240 17 7673700 splice donor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691039
rs1131691039
TP53
0.851 0.240 17 7673700 splice donor variant C/A;G;T snv
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 0
dbSNP: rs1131691039
rs1131691039
TP53
0.851 0.240 17 7673700 splice donor variant C/A;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1131691039
rs1131691039
TP53
0.851 0.240 17 7673700 splice donor variant C/A;G;T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1131691040
rs1131691040
TP53
17 7670698 frameshift variant GC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691041
rs1131691041
TP53
17 7676271 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1131691043
rs1131691043
TP53
1.000 0.120 17 7675098 missense variant C/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.700 0
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		0.700 0