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: rs4488809
rs4488809
TP63
0.827 0.080 3 189638472 intron variant T/C snv 0.45
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.750 1.000 7 2011 2019
dbSNP: rs4488809
rs4488809
TP63
0.827 0.080 3 189638472 intron variant T/C snv 0.45
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.750 1.000 6 2011 2015
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.840 1.000 5 2010 2014
dbSNP: rs4488809
rs4488809
TP63
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 		0.050 1.000 5 2011 2015
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 1.000 4 2012 2015
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.040 1.000 4 2012 2015
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2012 2015
dbSNP: rs1205536026
rs1205536026
TP63
1.000 0.160 3 189867902 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 		0.700 1.000 4 1999 2003
dbSNP: rs121908835
rs121908835
TP63
0.882 0.240 3 189864379 missense variant C/T snv 7.0E-06
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 1.000 4 1999 2003
dbSNP: rs121908836
rs121908836
TP63
0.925 0.160 3 189864380 missense variant G/A snv 1.4E-05
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 1.000 4 1999 2003
dbSNP: rs121908837
rs121908837
TP63
1.000 0.160 3 189868620 missense variant T/C snv
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 1.000 4 1999 2003
dbSNP: rs121908839
rs121908839
TP63
0.925 0.160 3 189867905 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 		0.700 1.000 4 1999 2003
dbSNP: rs121908840
rs121908840
TP63
0.925 0.160 3 189867903 missense variant G/A snv
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 1.000 4 1999 2003
dbSNP: rs121908841
rs121908841
TP63
1.000 0.160 3 189868615 missense variant G/A snv
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 1.000 4 1999 2003
dbSNP: rs121908844
rs121908844
TP63
1.000 0.160 3 189868639 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 		0.800 1.000 4 1999 2003
dbSNP: rs121908845
rs121908845
TP63
0.925 0.200 3 189889478 missense variant T/C snv
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		0.810 1.000 4 2003 2010
dbSNP: rs121908849
rs121908849
TP63
0.925 0.240 3 189866712 missense variant G/A snv
CUI: C1858562
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 		0.800 1.000 4 1999 2003
dbSNP: rs886039442
rs886039442
TP63
0.925 0.160 3 189867906 missense variant G/A 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 4 1999 2003
dbSNP: rs886041251
rs886041251
TP63
0.882 0.360 3 189868614 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 		0.700 1.000 4 1999 2003
dbSNP: rs121908840
rs121908840
TP63
0.925 0.160 3 189867903 missense variant G/A snv
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		0.800 1.000 3 2003 2004
dbSNP: rs121908846
rs121908846
TP63
1.000 0.160 3 189890874 missense variant T/C;G snv 4.0E-06
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		0.800 1.000 3 2003 2004
dbSNP: rs113993967
rs113993967
TP63
0.851 0.240 3 189868597 missense variant G/A snv
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.020 1.000 2 2007 2018
dbSNP: rs1173679499
rs1173679499
TP63
0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.020 1.000 2 2004 2008
dbSNP: rs121908838
rs121908838
TP63
1.000 0.080 3 189864349 missense variant A/G snv
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		0.800 1.000 2 2000 2001
dbSNP: rs577715207
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2007 2010