Source: CLINVAR

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: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 7 1990 2015
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0