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: rs59758982
rs59758982 		0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs59758982
rs59758982 		0.925 0.040 17 7676326 intron variant TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC delins 0.82
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1641549
rs1641549 		17 7671457 intron variant C/T snv 0.35
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2016 2016
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: 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: rs35119871
rs35119871 		17 7664197 intron variant C/T snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs75821853
rs75821853 		1.000 0.080 17 7675397 5 prime UTR variant T/C snv 0.18
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2020 2020
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
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: rs12951053
rs12951053 		0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053 		0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs12951053
rs12951053 		0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs12951053
rs12951053 		0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053 		0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007