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: rs11375254
rs11375254
TP63
0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs11375254
rs11375254
TP63
0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2019 2019
dbSNP: rs11375254
rs11375254
TP63
0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs13080835
rs13080835
TP63
0.925 0.080 3 189639410 intron variant G/T snv 0.45
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2017 2017
dbSNP: rs13080835
rs13080835
TP63
0.925 0.080 3 189639410 intron variant G/T snv 0.45
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs13314271
rs13314271
TP63
0.925 0.080 3 189639813 intron variant T/C snv 0.45
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 1 2014 2014
dbSNP: rs17447439
rs17447439
TP63
1.000 0.080 3 189831634 intron variant A/G snv 5.4E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs28512356
rs28512356
TP63
1.000 0.040 3 189897686 downstream gene variant C/A;G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2015 2015
dbSNP: rs4687074
rs4687074
TP63
3 189616435 intergenic variant A/G;T snv 0.39
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs7636839
rs7636839
TP63
1.000 0.040 3 189639152 intron variant A/G snv 0.45
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs76479869
rs76479869
TP63
0.882 0.120 3 189835583 intron variant C/T snv 4.3E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 1.000 1 2017 2017
dbSNP: rs76479869
rs76479869
TP63
0.882 0.120 3 189835583 intron variant C/T snv 4.3E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.700 1.000 1 2017 2017
dbSNP: rs76479869
rs76479869
TP63
0.882 0.120 3 189835583 intron variant C/T snv 4.3E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 1.000 1 2017 2017
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C0005741
Disease: Blepharitis
Blepharitis 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C0010043
Disease: Corneal Ulcer
Corneal Ulcer 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 1.000 1 2010 2010
dbSNP: rs797044484
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.700 1.000 1 2010 2010
dbSNP: rs864621968
rs864621968
TP63
1.000 0.160 3 189864392 missense variant A/G snv
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs9817981
rs9817981
TP63
1.000 0.040 3 189845741 intron variant A/G;T snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.700 1.000 1 2011 2011