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: rs760026775
rs760026775
TP63
1.000 0.200 3 189894389 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.020 1.000 2 2005 2012
dbSNP: rs761885185
rs761885185
TP63
0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.020 1.000 2 2004 2011
dbSNP: rs761885185
rs761885185
TP63
0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.020 1.000 2 2004 2011
dbSNP: rs761885185
rs761885185
TP63
0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.020 1.000 2 2004 2011
dbSNP: rs7631358
rs7631358
TP63
0.851 0.080 3 189630622 upstream gene variant G/A snv 0.13
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2014 2017
dbSNP: rs7631358
rs7631358
TP63
0.851 0.080 3 189630622 upstream gene variant G/A snv 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2014 2017
dbSNP: rs7631358
rs7631358
TP63
0.851 0.080 3 189630622 upstream gene variant G/A snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2014 2017
dbSNP: rs886039442
rs886039442
TP63
0.925 0.160 3 189867906 missense variant G/A snv
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		0.700 1.000 2 2000 2001
dbSNP: rs9854771
rs9854771
TP63
0.925 0.240 3 189790682 intron variant G/A snv 0.34
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 1.000 2 2015 2018
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: 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: 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: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.710 1.000 1 2006 2006
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