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.
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
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
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
Transient Ischemic Attack
CUI: C0007787
Disease: Transient Ischemic Attack
16 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
Angle Closure Glaucoma
CUI: C0017605
Disease: Angle Closure Glaucoma
56 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
Primary angle-closure glaucoma
CUI: C0017606
Disease: Primary angle-closure glaucoma
55 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
Malignant Childhood Neoplasm
CUI: C0278704
Disease: Malignant Childhood Neoplasm
34 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2017 2017
Rectal Carcinoma
CUI: C0007113
Disease: Rectal Carcinoma
112 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2017 2018
Childhood Kidney Wilms Tumor
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
36 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2017 2017
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1 2017 2017
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
125 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2017 2017
Paramyotonia Congenita (disorder)
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
26 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2017 2017
Obesity
CUI: C0028754
Disease: Obesity
1111 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2016 2019
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1 2016 2016
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
18 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
182 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
188 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
Differentiated Thyroid Gland Carcinoma
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
80 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2015 2015
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
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
131 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2015 2015
Primary differentiated carcinoma of thyroid gland
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
41 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2015 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2014 2015