TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
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: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.867 15 2006 2018
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.933 15 2006 2018
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.933 15 2006 2018
dbSNP: rs28934578
rs28934578 		0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 1.000 4 2009 2018
dbSNP: rs28934576
rs28934576 		0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 1.000 3 2007 2017
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 3 2018 2019
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.020 1.000 2 2015 2015
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		0.020 1.000 2 2008 2014
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.020 1.000 2 2015 2015
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs281865547
rs281865547 		0.925 0.120 17 7689284 missense variant C/A snv
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 1.000 2 2011 2011
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2017 2019
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.020 1.000 2 2007 2009
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.020 1.000 2 2015 2015