DisGeNET - a database of gene-disease associations

List of associated variants

Christ-Siemens-Touraine syndrome, C0162359

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1131692034	EDA	0.790	0.160	X	69616488	stop gained	C/A	snv			14
rs132630312	EDA	0.807	0.120	X	69957093	missense variant	C/T	snv		1.9E-05	6
rs132630317	EDA	0.827	0.080	X	70035478	missense variant	G/A;T	snv			5
rs132630321	EDA	0.851	0.120	X	70035446	missense variant	C/T	snv	5.5E-06	9.6E-06	4
rs132630308	EDA	0.925	0.120	X	69616489	missense variant	T/C	snv			2
rs132630320	EDA	0.925	0.120	X	70035505	missense variant	C/G	snv			2
rs387907197	EDA	0.925	0.080	X	70033430	missense variant	C/T	snv			2
rs397516654	EDA	0.925	0.120	X	70035527	missense variant	T/C	snv	1.1E-05	3.0E-05	2
rs879255551	EDA	0.925	0.120	X	70033469	missense variant	C/T	snv			2
rs1057520742	EDA	1.000	0.080	X	70027947	missense variant	C/T	snv			1
rs1064793104	EDA	1.000	0.080	X	70027931	inframe deletion	GATTCCTGGAATTCCAGG/-	delins			1
rs1064793105	EDA	1.000	0.080	X	70030491	missense variant	G/A	snv			1
rs132630309	EDA	1.000	0.080	X	69616514	missense variant	G/T	snv	2.9E-03	3.1E-03	1
rs132630310	EDA	1.000	0.080	X	69616375	stop gained	C/T	snv			1
rs132630311	EDA	1.000	0.080	X	69616495	missense variant	G/A	snv			1
rs132630313	EDA	1.000	0.080	X	69957096	missense variant	C/T	snv			1
rs132630314	EDA	1.000	0.080	X	69957097	missense variant	G/A;T	snv			1
rs132630315	EDA	1.000	0.080	X	70027956	missense variant	C/T	snv			1
rs132630316	EDA	1.000	0.080	X	70028001	missense variant	G/C	snv			1
rs132630318	EDA	1.000	0.080	X	69616491	stop gained	C/G	snv			1
rs140642493	EDA	1.000	0.080	X	69957088	missense variant	G/A	snv	2.7E-03	1.2E-03	1
rs1555972067	EDA	1.000	0.080	X	69616536	frameshift variant	CCGCCTT/AA	delins			1
rs1555972071	EDA	1.000	0.080	X	69616545	frameshift variant	-/G	delins			1
rs1556098384	EDA	1.000	0.080	X	70027887	frameshift variant	-/C	delins			1
rs1556098570	EDA	1.000	0.080	X	70027924	frameshift variant	-/C	delins			1