Source: BEFREE

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: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.020 1.000 2 2005 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		0.010 1.000 1 2009 2009
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 1.000 2 2007 2010
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		0.010 < 0.001 1 2010 2010
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.010 1.000 1 2010 2010
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.030 1.000 3 2001 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 0.500 2 2007 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2008 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 0.500 2 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.020 0.500 2 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 0.500 2 2007 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 < 0.001 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.020 1.000 2 2003 2012
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 1.000 2 2010 2012