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: rs886042183
rs886042183 		1.000 0.080 X 70029538 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 2 2008 2016
dbSNP: rs1064793104
rs1064793104 		1.000 0.080 X 70027931 inframe deletion GATTCCTGGAATTCCAGG/- 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 2013 2013
dbSNP: rs132630308
rs132630308 		0.925 0.120 X 69616489 missense variant 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 1 1996 1996
dbSNP: rs132630310
rs132630310 		1.000 0.080 X 69616375 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 1998 1998
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: 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: 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: 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: 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: 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
dbSNP: rs397516682
rs397516682 		1.000 0.080 X 70035394 stop gained G/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 1998 1998
dbSNP: rs727504417
rs727504417 		1.000 0.080 X 70030493 stop gained C/G;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 1.000 1 2001 2001
dbSNP: rs727504814
rs727504814 		1.000 0.080 X 69616706 splice donor variant T/C;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 1 2012 2012
dbSNP: rs876657640
rs876657640 		1.000 0.080 X 69957107 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 1 2001 2001
dbSNP: rs1057520742
rs1057520742 		1.000 0.080 X 70027947 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: rs1064793105
rs1064793105 		1.000 0.080 X 70030491 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 0.700 0
dbSNP: rs1131692034
rs1131692034 		0.790 0.160 X 69616488 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: rs132630309
rs132630309 		1.000 0.080 X 69616514 missense variant G/T snv 2.9E-03 3.1E-03
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: rs132630311
rs132630311 		1.000 0.080 X 69616495 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 0.700 0
dbSNP: rs132630315
rs132630315 		1.000 0.080 X 70027956 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: rs132630316
rs132630316 		1.000 0.080 X 70028001 missense variant G/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 0
dbSNP: rs132630318
rs132630318 		1.000 0.080 X 69616491 stop gained C/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 0
dbSNP: rs132630320
rs132630320 		0.925 0.120 X 70035505 missense variant C/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 0
dbSNP: rs132630321
rs132630321 		0.851 0.120 X 70035446 missense variant C/T snv 5.5E-06 9.6E-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: rs140642493
rs140642493 		1.000 0.080 X 69957088 missense variant G/A snv 2.7E-03 1.2E-03
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