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: 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
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: rs4396880
rs4396880
TP63
3 189638432 intron variant G/A snv 0.34
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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.840 1.000 5 2010 2014
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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2014 2014
dbSNP: rs4488809
rs4488809
TP63
0.827 0.080 3 189638472 intron variant T/C snv 0.45
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs6790167
rs6790167
TP63
0.827 0.080 3 189869485 intron variant A/G snv 0.53
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: rs113993963
rs113993963
TP63
0.925 0.240 3 189789816 missense variant A/C snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.700 0
dbSNP: rs113993965
rs113993965
TP63
0.925 0.240 3 189808465 missense variant G/A;T snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.700 0
dbSNP: rs113993966
rs113993966
TP63
0.925 0.240 3 189868596 missense variant C/G snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.700 0
dbSNP: rs121908847
rs121908847
TP63
0.925 0.240 3 189868641 missense variant A/G snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.700 0
dbSNP: rs121908849
rs121908849
TP63
0.925 0.240 3 189866712 missense variant G/A snv
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.700 0
dbSNP: rs797044843
rs797044843
TP63
1.000 0.240 3 189894419 frameshift variant C/- delins
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.700 0
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: rs9854771
rs9854771
TP63
0.925 0.240 3 189790682 intron variant G/A snv 0.34
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2018 2018
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: rs35592567
rs35592567
TP63
0.827 0.160 3 189896847 3 prime UTR variant C/G;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2016 2016
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