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: rs2287497
rs2287497 		0.882 0.120 17 7689462 intron variant G/A snv 0.25
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2287497
rs2287497 		0.882 0.120 17 7689462 intron variant G/A snv 0.25
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2287497
rs2287497 		0.882 0.120 17 7689462 intron variant G/A snv 0.25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
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: rs281865547
rs281865547 		0.925 0.120 17 7689284 missense variant C/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1213207387
rs1213207387 		1.000 0.120 17 7689255 stop gained C/G;T snv 4.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2287498
rs2287498 		0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2287498
rs2287498 		0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2287498
rs2287498 		0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2287498
rs2287498 		0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2287499
rs2287499 		0.925 0.080 17 7688850 missense variant C/G;T snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2287499
rs2287499 		0.925 0.080 17 7688850 missense variant C/G;T snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2287499
rs2287499 		0.925 0.080 17 7688850 missense variant C/G;T snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2287499
rs2287499 		0.925 0.080 17 7688850 missense variant C/G;T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs8064946
rs8064946 		0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs8064946
rs8064946 		0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs8064946
rs8064946 		0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs8064946
rs8064946 		0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2004 2004
dbSNP: rs2078486
rs2078486 		0.882 0.080 17 7679765 intron variant G/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2078486
rs2078486 		0.882 0.080 17 7679765 intron variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2078486
rs2078486 		0.882 0.080 17 7679765 intron variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12602273
rs12602273 		0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs12602273
rs12602273 		0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12602273
rs12602273 		0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs12602273
rs12602273 		0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015