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: 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: rs397516677
rs397516677 		1.000 0.080 X 70033475 missense variant G/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 0.800 1.000 22 1996 2016
dbSNP: rs397516679
rs397516679 		1.000 0.080 X 70033499 missense variant G/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 0.800 1.000 21 1996 2016
dbSNP: rs727504649
rs727504649 		1.000 0.080 X 69957104 missense variant A/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 0.800 1.000 21 1996 2016
dbSNP: rs879255552
rs879255552 		1.000 0.080 X 70030482 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 0.800 1.000 20 1996 2016
dbSNP: rs132630317
rs132630317 		0.827 0.080 X 70035478 missense variant G/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 0.710 1.000 1 2005 2005
dbSNP: rs61747506
rs61747506 		1.000 0.080 X 70035503 missense variant G/A;C snv 7.7E-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 20 1996 2016
dbSNP: rs132630314
rs132630314 		1.000 0.080 X 69957097 missense variant G/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 18 1998 2013
dbSNP: rs132630312
rs132630312 		0.807 0.120 X 69957093 missense variant C/T snv 1.9E-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 12 1998 2016
dbSNP: rs132630313
rs132630313 		1.000 0.080 X 69957096 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 7 1998 2011
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: rs876657686
rs876657686 		1.000 0.080 X 70027979 inframe deletion CAGGTCCTCCTGGTCCTC/- 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 5 1998 2016
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: 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: 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: rs727503011
rs727503011 		1.000 0.080 X 70035424 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 4 1996 2013
dbSNP: rs876657639
rs876657639 		1.000 0.080 X 70035500 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 4 1998 2011
dbSNP: rs879255551
rs879255551 		0.925 0.120 X 70033469 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 4 2009 2016
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: rs876657642
rs876657642 		1.000 0.080 X 70033515 missense variant A/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 3 2008 2013
dbSNP: rs876657685
rs876657685 		1.000 0.080 X 70027973 inframe deletion ACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACC/- 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 3 1998 2011
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: 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: rs397516675
rs397516675 		1.000 0.080 X 70033426 stop gained G/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 2001 2001
dbSNP: rs397516681
rs397516681 		1.000 0.080 X 70033506 missense variant A/G 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 2001 2011