DisGeNET - a database of gene-disease associations

List of associated variants

Obstructive azoospermia, C4023106

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
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs397508638	CFTR	0.807	0.160	7	117652871	frameshift variant	A/-;AA	delins			9
rs80034486	CFTR	0.807	0.160	7	117652877	missense variant	C/G	snv	1.4E-04	1.6E-04	9
rs879255539	ADGRG2 ; LOC101928415	0.882	0.040	X	19003070	frameshift variant	CACAG/TCT	delins			4
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
rs1300867348	CFTR	0.925	0.040	7	117664776	missense variant	A/G	snv			2
rs1555979575	MORC4 ; CLDN2	1.000	0.040	X	106928709	missense variant	G/C	snv			2