Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2011 2011
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs10937405
rs10937405
TP63
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 		0.010 < 0.001 1 2011 2011
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2011 2011
dbSNP: rs113993965
rs113993965
TP63
0.925 0.240 3 189808465 missense variant G/A;T snv
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 		0.010 1.000 1 2013 2013
dbSNP: rs113993967
rs113993967
TP63
0.851 0.240 3 189868597 missense variant G/A snv
CUI: C0241705
Disease: Difficulty passing urine
Difficulty passing urine 		0.010 1.000 1 2007 2007
dbSNP: rs113993967
rs113993967
TP63
0.851 0.240 3 189868597 missense variant G/A snv
CUI: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		0.010 1.000 1 2007 2007
dbSNP: rs1173679499
rs1173679499
TP63
0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.010 1.000 1 2002 2002
dbSNP: rs1173679499
rs1173679499
TP63
0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.010 1.000 1 2008 2008
dbSNP: rs1173679499
rs1173679499
TP63
0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 		0.010 1.000 1 2016 2016
dbSNP: rs1173679499
rs1173679499
TP63
0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.010 1.000 1 2004 2004
dbSNP: rs1204870496
rs1204870496
TP63
0.925 0.200 3 189789839 missense variant T/G snv 7.0E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs1204870496
rs1204870496
TP63
0.925 0.200 3 189789839 missense variant T/G snv 7.0E-06
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.010 1.000 1 2016 2016
dbSNP: rs121908835
rs121908835
TP63
0.882 0.240 3 189864379 missense variant C/T snv 7.0E-06
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.010 1.000 1 2012 2012
dbSNP: rs121908835
rs121908835
TP63
0.882 0.240 3 189864379 missense variant C/T snv 7.0E-06
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.010 1.000 1 2012 2012
dbSNP: rs121908836
rs121908836
TP63
0.925 0.160 3 189864380 missense variant G/A snv 1.4E-05
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.010 1.000 1 2018 2018
dbSNP: rs121908848
rs121908848
TP63
0.925 0.080 3 189738739 missense variant C/A;T snv 1.2E-05
CUI: C0221373
Disease: Claw hand
Claw hand 		0.010 1.000 1 2005 2005
dbSNP: rs1363677860
rs1363677860
TP63
1.000 0.120 3 189864335 missense variant T/C snv 4.0E-06
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		0.010 1.000 1 2005 2005
dbSNP: rs16864812
rs16864812
TP63
1.000 0.040 3 189816275 intron variant A/C snv 0.34
CUI: C0031030
Disease: Periapical Periodontitis
Periapical Periodontitis 		0.010 1.000 1 2019 2019
dbSNP: rs17506395
rs17506395
TP63
0.925 0.080 3 189803530 intron variant T/G snv 0.19
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs17506395
rs17506395
TP63
0.925 0.080 3 189803530 intron variant T/G snv 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs17506395
rs17506395
TP63
0.925 0.080 3 189803530 intron variant T/G snv 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs34201045
rs34201045
TP63
1.000 0.040 3 189789729 5 prime UTR variant -/AG;AGA;AGAG;AGG;AGGG ins
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.010 1.000 1 2008 2008
dbSNP: rs35592567
rs35592567
TP63
0.827 0.160 3 189896847 3 prime UTR variant C/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016