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.
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
31 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2013 2016
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2013 2016
Well Differentiated Oligodendroglioma
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
22 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2007 2017
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1 2019 2019
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1 2019 2019
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
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
Transient Ischemic Attack
CUI: C0007787
Disease: Transient Ischemic Attack
16 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2014 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2014 2015
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.900 10 2009 2015
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
Stage IV Gallbladder Cancer AJCC v8
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
56 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2009
Stage III Gallbladder Cancer AJCC v8
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
56 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2009
Stage IIB Gallbladder Cancer AJCC v8
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
56 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2009
Stage IIA Gallbladder Cancer AJCC v8
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
56 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2009
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
56 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2009
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
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.400 5 2007 2015
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2003 2017