EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Christ-Siemens-Touraine syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556110934
rs1556110934 		1.000 0.080 X 70035533 frameshift variant C/TCAAGATGG delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1569272194
rs1569272194 		1.000 0.080 X 69616469 missense variant A/T snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1998 2008
dbSNP: rs1569272328
rs1569272328 		1.000 0.080 X 69616560 frameshift variant T/- del
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1569272528
rs1569272528 		1.000 0.080 X 69616707 frameshift variant -/A delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1569384962
rs1569384962 		1.000 0.080 X 69957088 frameshift variant -/T delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1569404780
rs1569404780 		1.000 0.080 X 70027855 splice acceptor variant A/T snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 1998 2015
dbSNP: rs1569404873
rs1569404873 		1.000 0.080 X 70027903 frameshift variant -/T ins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1569406514
rs1569406514 		1.000 0.080 X 70033513 frameshift variant -/TA delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1569407346
rs1569407346 		1.000 0.080 X 70035566 missense variant C/T snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 2001 2013
dbSNP: rs387907197
rs387907197 		0.925 0.080 X 70033430 missense variant C/T snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516654
rs397516654 		0.925 0.120 X 70035527 missense variant T/C snv 1.1E-05 3.0E-05
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs397516656
rs397516656 		1.000 0.080 X 69616579 frameshift variant -/G delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516657
rs397516657 		1.000 0.080 X 69616472 missense variant T/A snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516659
rs397516659 		1.000 0.080 X 69616310 start lost T/C snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 2001 2011
dbSNP: rs397516660
rs397516660 		1.000 0.080 X 69616637 stop gained C/A snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516661
rs397516661 		1.000 0.080 X 69616655 stop gained T/A snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516662
rs397516662 		1.000 0.080 X 69957087 missense variant C/T snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 25 1996 2016
dbSNP: rs397516664
rs397516664 		1.000 0.080 X 70023246 splice region variant G/A;C;T snv 5.8E-06
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516665
rs397516665 		1.000 0.080 X 70027866 inframe deletion TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC/- delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 1998 2016
dbSNP: rs397516666
rs397516666 		1.000 0.080 X 70027877 inframe deletion AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC/- delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 1998 2011
dbSNP: rs397516667
rs397516667 		1.000 0.080 X 70027892 frameshift variant CCAGGACCCCCAGGACCTCCAGGACCCC/- del
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 1998 1998
dbSNP: rs397516668
rs397516668 		1.000 0.080 X 70027889 inframe insertion CAGGACCTCCAGGACCCC/-;CAGGACCTCCAGGACCCCCAGGACCTCCAGGACCCC delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 1998 2016
dbSNP: rs397516670
rs397516670 		1.000 0.080 X 70027985 frameshift variant TCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGG/- delins
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 1998 1998
dbSNP: rs397516671
rs397516671 		1.000 0.080 X 70027937 missense variant C/T snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516672
rs397516672 		1.000 0.080 X 70029527 stop gained C/T snv
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2001 2001