TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs786201059
rs786201059 		0.701 0.360 17 7673764 stop gained C/A;G;T snv
CUI: C4288013
Disease: Vulvar Adenocarcinoma of Mammary Gland Type
Vulvar Adenocarcinoma of Mammary Gland Type 		0.700 0
dbSNP: rs1555524354
rs1555524354 		0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555524370
rs1555524370 		0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121912651
rs121912651 		0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs28934575
rs28934575 		0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 30 1990 2017
dbSNP: rs121912651
rs121912651 		0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 19 1990 2017
dbSNP: rs121912664
rs121912664 		0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.710 1.000 19 2001 2017
dbSNP: rs55863639
rs55863639 		1.000 0.120 17 7675994 splice region variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 18 1989 2015
dbSNP: rs28934578
rs28934578 		0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 16 1994 2016
dbSNP: rs55832599
rs55832599 		0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 14 1992 2017
dbSNP: rs587782529
rs587782529 		0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 14 1997 2015
dbSNP: rs121912654
rs121912654 		0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 13 1998 2011
dbSNP: rs121913343
rs121913343 		0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1993 2016
dbSNP: rs28934573
rs28934573 		0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1992 2016
dbSNP: rs28934574
rs28934574 		0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1992 2016
dbSNP: rs371524413
rs371524413 		0.925 0.200 17 7675145 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1998 2018
dbSNP: rs397514495
rs397514495 		0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1992 2017
dbSNP: rs587778720
rs587778720 		0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1996 2015
dbSNP: rs879253911
rs879253911 		0.925 0.200 17 7675074 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1994 2013
dbSNP: rs28934874
rs28934874 		0.695 0.480 17 7675161 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 1991 2018
dbSNP: rs786201838
rs786201838 		0.683 0.440 17 7674953 missense variant T/A;C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 1993 2015
dbSNP: rs371409680
rs371409680 		0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1998 2015
dbSNP: rs397516436
rs397516436 		0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1994 2016
dbSNP: rs587782596
rs587782596 		0.807 0.200 17 7675071 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1992 2017