TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
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: rs113993963
rs113993963 		0.925 0.240 3 189789816 missense variant A/C snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993963
rs113993963 		0.925 0.240 3 189789816 missense variant A/C snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993964
rs113993964 		1.000 0.200 3 189894305 frameshift variant C/- del
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993965
rs113993965 		0.925 0.240 3 189808465 missense variant G/A;T snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993966
rs113993966 		0.925 0.240 3 189868596 missense variant C/G snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993966
rs113993966 		0.925 0.240 3 189868596 missense variant C/G snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993967
rs113993967 		0.851 0.240 3 189868597 missense variant G/A snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121908839
rs121908839 		0.925 0.160 3 189867905 missense variant C/T snv
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908847
rs121908847 		0.925 0.240 3 189868641 missense variant A/G snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121908848
rs121908848 		0.925 0.080 3 189738739 missense variant C/A;T snv 1.2E-05
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908849
rs121908849 		0.925 0.240 3 189866712 missense variant G/A snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553856553
rs1553856553 		0.925 0.200 3 189864391 missense variant C/T snv
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553856553
rs1553856553 		0.925 0.200 3 189864391 missense variant C/T snv
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 0
dbSNP: rs1553856553
rs1553856553 		0.925 0.200 3 189864391 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1560277554
rs1560277554 		1.000 0.120 3 189866732 frameshift variant -/CC delins
CUI: C1851878
Disease: OROFACIAL CLEFT 8
OROFACIAL CLEFT 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1560311010
rs1560311010 		1.000 0.040 3 189894253 stop gained G/A snv
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs797044843
rs797044843 		1.000 0.240 3 189894419 frameshift variant C/- delins
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs900140738
rs900140738 		1.000 0.040 3 189894239 stop gained C/A;T snv 7.0E-06
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs10937405
rs10937405 		0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2011 2011
dbSNP: rs10937405
rs10937405 		0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs10937405
rs10937405 		0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2011 2011
dbSNP: rs4488809
rs4488809 		0.827 0.080 3 189638472 intron variant T/C snv 0.45
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.750 1.000 7 2011 2019
dbSNP: rs4488809
rs4488809 		0.827 0.080 3 189638472 intron variant T/C snv 0.45
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.750 1.000 6 2011 2015
dbSNP: rs10937405
rs10937405 		0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.840 1.000 5 2010 2014
dbSNP: rs4488809
rs4488809 		0.827 0.080 3 189638472 intron variant T/C snv 0.45
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.050 1.000 5 2011 2015