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: rs113993963
rs113993963
TP63
0.925 0.240 3 189789816 missense variant A/C snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.700 0
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: rs113993964
rs113993964
TP63
1.000 0.200 3 189894305 frameshift variant C/- del
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells 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: C0406709
Disease: Hay-Wells syndrome
Hay-Wells 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: rs113993967
rs113993967
TP63
0.851 0.240 3 189868597 missense variant G/A snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.700 0
dbSNP: rs121908839
rs121908839
TP63
0.925 0.160 3 189867905 missense variant C/T snv
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		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: rs121908848
rs121908848
TP63
0.925 0.080 3 189738739 missense variant C/A;T snv 1.2E-05
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		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: rs1553856553
rs1553856553
TP63
0.925 0.200 3 189864391 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 0
dbSNP: rs1553856553
rs1553856553
TP63
0.925 0.200 3 189864391 missense variant C/T snv
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.700 0
dbSNP: rs1553856553
rs1553856553
TP63
0.925 0.200 3 189864391 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1560277554
rs1560277554
TP63
1.000 0.120 3 189866732 frameshift variant -/CC delins
CUI: C1851878
Disease: OROFACIAL CLEFT 8
OROFACIAL CLEFT 8 		0.700 0
dbSNP: rs1560311010
rs1560311010
TP63
1.000 0.040 3 189894253 stop gained G/A snv
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		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: rs900140738
rs900140738
TP63
1.000 0.040 3 189894239 stop gained C/A;T snv 7.0E-06
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.700 0
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: rs17505102
rs17505102
TP63
1.000 0.120 3 189683987 intron variant G/C snv 9.7E-02
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.800 1.000 1 2012 2012
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: rs121908845
rs121908845
TP63
0.925 0.200 3 189889478 missense variant T/C snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.710 1.000 1 2010 2010
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