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: C1519346
Disease: Skin Carcinogenesis
Skin Carcinogenesis 		0.010 1.000 1 2006 2006
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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.010 1.000 1 2013 2013
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: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0268074
Disease: Indian childhood cirrhosis
Indian childhood cirrhosis 		0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		0.010 < 0.001 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		0.010 1.000 1 2008 2008
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 < 0.001 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		0.010 < 0.001 1 2006 2006
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.010 1.000 1 2003 2003
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: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma 		0.010 1.000 1 2014 2014