rs1131691014, TP53

N. diseases: 214
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cutaneous lymphoma
CUI: C1276146
Disease: Cutaneous lymphoma
3 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1 2006 2006
Epithelioid angiomyolipoma
CUI: C4518194
Disease: Epithelioid angiomyolipoma
3 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2015 2015
Adult Acute Megakaryoblastic Leukemia
4 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
Childhood Acute Megakaryoblastic Leukemia
4 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
Familial Retinoblastoma
CUI: C0751483
Disease: Familial Retinoblastoma
4 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2011 2011
Treatment related acute myeloid leukaemia
4 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
Steroid Sulfatase Deficiency Disease
5 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
Indian childhood cirrhosis
CUI: C0268074
Disease: Indian childhood cirrhosis
6 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
Anaplasia
CUI: C0002793
Disease: Anaplasia
7 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
Skin Carcinogenesis
CUI: C1519346
Disease: Skin Carcinogenesis
7 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
Mycosis Fungoides
CUI: C0026948
Disease: Mycosis Fungoides
8 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1 2006 2006
Squamous intraepithelial lesion
CUI: C0333873
Disease: Squamous intraepithelial lesion
8 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
Undifferentiated carcinoma
CUI: C0205698
Disease: Undifferentiated carcinoma
8 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2003 2003
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
9 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
Ichthyosis, X-Linked
CUI: C0079588
Disease: Ichthyosis, X-Linked
10 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
Keratosis
CUI: C0022593
Disease: Keratosis
10 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
Extrapulmonary Small Cell Carcinoma
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
11 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
Gastric Cardia Adenocarcinoma
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
11 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
Prostate Cancer, Hereditary, 7
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
11 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1 2010 2010
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
12 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2010 2010
Gastric Cardia Carcinoma
CUI: C1333763
Disease: Gastric Cardia Carcinoma
13 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
Infiltrating Cervical Carcinoma
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
13 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
Blast Phase
CUI: C0005699
Disease: Blast Phase
14 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
Febrile Neutropenia
CUI: C0746883
Disease: Febrile Neutropenia
14 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1 2012 2012
Fibroid Tumor
CUI: C0023267
Disease: Fibroid Tumor
14 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019