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
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs74597325	CFTR	0.708	0.320	7	117587811	stop gained	C/G;T	snv	6.8E-05		18
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs75527207	CFTR	0.732	0.440	7	117587806	missense variant	G/A	snv	1.8E-04	3.0E-04	15
rs77010898	CFTR	0.742	0.280	7	117642566	stop gained	G/A;C	snv	4.6E-04; 4.0E-06		13
rs1800076	CFTR	0.763	0.200	7	117509093	missense variant	G/A;T	snv	1.5E-02; 8.0E-06		10
rs75961395	CFTR	0.763	0.280	7	117509123	missense variant	G/A;T	snv	4.0E-05		10
rs397508638	CFTR	0.807	0.160	7	117652871	frameshift variant	A/-;AA	delins			9
rs75541969	CFTR	0.827	0.200	7	117614699	missense variant	G/C	snv	4.0E-04	3.2E-04	9
rs80034486	CFTR	0.807	0.160	7	117652877	missense variant	C/G	snv	1.4E-04	1.6E-04	9
rs77932196	CFTR	0.790	0.280	7	117540270	missense variant	G/A;C;T	snv	2.4E-05; 2.4E-05		8
rs74551128	CFTR-AS1 ; CFTR	0.807	0.160	7	117548795	missense variant	C/A;T	snv	5.3E-05; 5.7E-05		8
rs121909011	CFTR	0.807	0.160	7	117540230	missense variant	C/T	snv	5.6E-05	9.1E-05	6
rs113993960	CFTR ; CFTR-AS1	0.827	0.160	7	117559591	inframe deletion	CTT/-	delins		8.0E-03	6
rs121908759	CFTR	0.827	0.160	7	117592032	missense variant	G/A	snv	1.0E-04	3.8E-04	5
rs121909005	CFTR	0.851	0.160	7	117587801	missense variant	T/A;C;G	snv	4.0E-06; 8.0E-06		5
rs1800111	CFTR	0.882	0.160	7	117610521	missense variant	G/C	snv	2.3E-03	2.1E-03	5
rs267606723	CFTR	0.827	0.200	7	117642451	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		5
rs74767530	CFTR	0.851	0.320	7	117627537	stop gained	C/T	snv	5.6E-05	4.9E-05	5
rs193922500	CFTR-AS1 ; CFTR	0.851	0.160	7	117548798	missense variant	T/C	snv	2.0E-04	4.9E-05	5
rs879255539	ADGRG2 ; LOC101928415	0.882	0.040	X	19003070	frameshift variant	CACAG/TCT	delins			4
rs121908752	CFTR	0.851	0.160	7	117535285	missense variant	T/G	snv	1.9E-04	1.3E-04	4
rs121908753	CFTR	0.851	0.160	7	117540285	missense variant	G/A	snv	2.4E-05		4