rs1042522, TP53

N. diseases: 242
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.
Small cell lung cancer extensive stage
CUI: C0278726
Disease: Small cell lung cancer extensive stage
1 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
Occupational cancer of skin
CUI: C4302347
Disease: Occupational cancer of skin
2 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2017 2017
Cutaneous lymphoma
CUI: C1276146
Disease: Cutaneous lymphoma
3 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1 2006 2006
Epithelioid angiomyolipoma
CUI: C4518194
Disease: Epithelioid angiomyolipoma
3 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2015 2015
Salivary Gland Neoplasms
CUI: C0036095
Disease: Salivary Gland Neoplasms
3 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
Adult Acute Megakaryoblastic Leukemia
CUI: C0279632
Disease: Adult Acute Megakaryoblastic Leukemia
4 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2000 2000
Bone neoplasms
CUI: C0005967
Disease: Bone neoplasms
4 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
Childhood Acute Megakaryoblastic Leukemia
CUI: C0279650
Disease: Childhood Acute Megakaryoblastic Leukemia
4 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2000 2000
Familial Retinoblastoma
CUI: C0751483
Disease: Familial Retinoblastoma
4 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2011 2011
Treatment related acute myeloid leukaemia
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
4 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
Steroid Sulfatase Deficiency Disease
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
5 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
Indian childhood cirrhosis
CUI: C0268074
Disease: Indian childhood cirrhosis
6 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
Leukoplakia, Oral
CUI: C0023532
Disease: Leukoplakia, Oral
6 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1 2018 2018
Anaplasia
CUI: C0002793
Disease: Anaplasia
7 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
Skin Carcinogenesis
CUI: C1519346
Disease: Skin Carcinogenesis
7 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
Mycosis Fungoides
CUI: C0026948
Disease: Mycosis Fungoides
8 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1 2006 2006
Squamous intraepithelial lesion
CUI: C0333873
Disease: Squamous intraepithelial lesion
8 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2012 2012
Undifferentiated carcinoma
CUI: C0205698
Disease: Undifferentiated carcinoma
8 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2003 2003
Fast acetylator due to N-acetyltransferase enzyme variant
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
9 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
CUI: C1834582
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
9 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2000 2000
Skin Neoplasms
CUI: C0037286
Disease: Skin Neoplasms
9 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2017 2017
Ichthyosis, X-Linked
CUI: C0079588
Disease: Ichthyosis, X-Linked
10 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
Keratosis
CUI: C0022593
Disease: Keratosis
10 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
Retinal Detachment
CUI: C0035305
Disease: Retinal Detachment
10 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
Extrapulmonary Small Cell Carcinoma
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
11 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014