rs121912651, TP53

N. diseases: 53
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.
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
348 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
158 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Abnormality of the tongue
CUI: C0878638
Disease: Abnormality of the tongue
2 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.030 0.667 3 2007 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.030 0.667 3 2007 2019
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2004 2008
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2004 2008
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
16 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2007 2007
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
Chronic graft-versus-host disease
CUI: C0867389
Disease: Chronic graft-versus-host disease
17 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2018 2018
Lichen Sclerosus et Atrophicus
CUI: C0023652
Disease: Lichen Sclerosus et Atrophicus
2 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2007 2007
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1 2015 2015
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013