Source: UNIPROT

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: 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 3 2003 2010
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: 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: 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: 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: 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: 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: 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: 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: 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: 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