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: 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: 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: 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: 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: 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
dbSNP: rs121908847
rs121908847
TP63
0.925 0.240 3 189868641 missense variant A/G snv
CUI: C1851878
Disease: OROFACIAL CLEFT 8
OROFACIAL CLEFT 8 		0.800 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: 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2007 2007
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: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.010 1.000 1 2007 2007
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: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2007 2007