DisGeNET - a database of gene-disease associations

List of associated variants

Multiple gastrointestinal atresias (disorder), C0220744

Source: ALL

Results per page

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
rs886042805	TTC7A	0.827	0.080	2	46950464	stop gained	G/T	snv			5
rs886042806	TTC7A	0.827	0.080	2	47006038	frameshift variant	-/C	delins			5
rs1057516047	STPG4 ; TTC7A	0.882	0.120	2	47073816	stop gained	C/T	snv			4
rs149602485	STPG4 ; TTC7A	1.000	0.080	2	47050043	missense variant	T/A;C	snv	4.0E-06; 2.1E-03		1
rs768053395	STPG4 ; TTC7A	1.000	0.080	2	47073815	frameshift variant	-/C	delins	4.0E-06		1
rs876657393	STPG4 ; TTC7A	1.000	0.080	2	47073840	missense variant	G/A	snv		7.0E-06	1
rs147914967	TTC7A	1.000	0.080	2	46950389	missense variant	G/A	snv	2.0E-05	2.8E-05	1
rs1558568116	TTC7A	1.000	0.080	2	47006687	stop gained	G/A	snv			1
rs587776971	TTC7A	1.000	0.080	2	46994513	splice region variant	AAGT/-	delins		3.5E-05	1
rs587777547	TTC7A	1.000	0.080	2	46993514	stop gained	C/T	snv			1
rs587777548	TTC7A	1.000	0.080	2	46995142	stop gained	C/G;T	snv	8.0E-06		1
rs587777549	TTC7A	1.000	0.080	2	47021948	frameshift variant	G/-	delins			1
rs587777550	TTC7A	1.000	0.080	2	47029255	frameshift variant	-/G	ins			1
rs587777551	TTC7A	1.000	0.080	2	47022084	intron variant	T/A	snv			1
rs776906926	TTC7A	1.000	0.080	2	47024334	missense variant	C/T	snv	8.2E-06	7.0E-06	1
rs777469885	TTC7A	1.000	0.080	2	46994356	splice acceptor variant	G/T	snv		7.0E-06	1
rs786205698	TTC7A	1.000	0.080	2	47024294	stop gained	C/T	snv	4.1E-06		1
rs876657392	TTC7A	1.000	0.080	2	47006639	splice acceptor variant	A/G	snv			1
rs886037746	TTC7A	1.000	0.080	2	46978905	splice donor variant	G/-	delins			1
rs886037747	TTC7A	1.000	0.080	2	46950491	frameshift variant	TCTA/-	delins			1
rs139010200	TTC7A ; STPG4	1.000	0.080	2	47046329	missense variant	A/C;G	snv	4.0E-06; 2.1E-03		1
rs202044972	TTC7A ; STPG4	1.000	0.080	2	47073861	missense variant	G/A;T	snv	2.0E-05		1
rs587776972	TTC7A ; STPG4	1.000	0.080	2	47073814	missense variant	T/C	snv	4.0E-06	1.4E-05	1