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: 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: 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: rs779179533
rs779179533
TP63
1.000 0.080 3 189808322 missense variant G/C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 1999 1999
dbSNP: rs779179533
rs779179533
TP63
1.000 0.080 3 189808322 missense variant G/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 1999 1999
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: 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: rs121908842
rs121908842
TP63
1.000 0.200 3 189890795 missense variant A/T snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 1.000 1 2001 2001
dbSNP: rs121908843
rs121908843
TP63
1.000 0.200 3 189890817 missense variant T/G snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 1.000 1 2001 2001
dbSNP: rs765502786
rs765502786
TP63
1.000 0.160 3 189869330 missense variant G/A snv 1.2E-05
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.010 1.000 1 2001 2001
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: 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: 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: 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: 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: 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: 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: 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: rs921649285
rs921649285
TP63
1.000 0.120 3 189894360 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		0.010 1.000 1 2005 2005
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