rs121912651, TP53

N. diseases: 37
Source: CLINVAR ×
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
54 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
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
179 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
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 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
100 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
35 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
25 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
436 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
9 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