DisGeNET - a database of gene-disease associations

List of associated variants

Congenital bilateral aplasia of vas deferens, C0403814

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
rs121908792	CFTR	0.851	0.160	7	117530898	splice acceptor variant	G/A;C;T	snv	1.6E-05		4
rs121908799	CFTR	0.851	0.160	7	117592218	frameshift variant	AA/G	delins			4
rs121908802	CFTR	0.851	0.160	7	117535263	missense variant	C/T	snv		7.0E-06	4
rs121909017	CFTR ; CFTR-AS1	0.851	0.160	7	117559546	missense variant	C/T	snv	8.0E-06		4
rs35516286	CFTR	0.851	0.160	7	117531068	missense variant	T/A;C	snv	1.8E-03		4
rs397508266	CFTR	0.851	0.160	7	117589467	intron variant	A/G	snv		2.8E-05	4
rs397508464	CFTR	0.851	0.160	7	117530918	missense variant	A/C;G	snv	8.0E-06		4
rs397508759	CFTR	0.851	0.160	7	117534363	stop gained	G/A;T	snv	4.0E-06		4
rs397508778	CFTR	0.851	0.160	7	117535326	stop gained	C/T	snv	4.0E-06		4
rs75039782	CFTR	0.851	0.160	7	117639961	intron variant	C/G;T	snv			4
rs75096551	CFTR	0.851	0.160	7	117606754	splice donor variant	G/A;C;T	snv	1.0E-04	2.9E-04	4
rs77101217	CFTR-AS1 ; CFTR	0.851	0.160	7	117559548	stop gained	C/T	snv	2.0E-05	7.0E-06	4
rs77284892	CFTR	0.851	0.160	7	117509047	stop gained	G/A;T	snv	2.4E-05		4
rs77646904	CFTR-AS1 ; CFTR	0.851	0.160	7	117559629	missense variant	G/A;T	snv	1.5E-04; 4.0E-06		4
rs77834169	CFTR	0.851	0.160	7	117530974	missense variant	C/A;G;T	snv	8.0E-06; 2.0E-05; 2.0E-04		4
rs78756941	CFTR	0.851	0.160	7	117531115	splice donor variant	G/T	snv	7.7E-05	1.0E-04	4
rs78802634	CFTR	0.851	0.160	7	117611707	stop gained	G/A	snv	2.4E-05		4
rs79282516	CFTR-AS1 ; CFTR	0.851	0.160	7	117559509	missense variant	G/A;T	snv			4
rs79850223	CFTR	0.851	0.160	7	117627525	stop gained	C/T	snv	3.2E-05	2.8E-05	4
rs80055610	CFTR	0.851	0.160	7	117587833	missense variant	G/A;C	snv	2.4E-05		4
rs80224560	CFTR	0.851	0.160	7	117602868	splice region variant	G/A	snv	7.6E-05	6.3E-05	4
rs80282562	CFTR	0.851	0.160	7	117534318	missense variant	G/A	snv	1.6E-05		4
rs1800111	CFTR	0.882	0.160	7	117610521	missense variant	G/C	snv	2.3E-03	2.1E-03	5
rs774488954	LOC101928415 ; ADGRG2	0.882	0.040	X	19008001	frameshift variant	A/-;AA	delins			4
rs879255538	LOC101928415 ; ADGRG2	0.882	0.040	X	18994920	frameshift variant	A/-	delins			4