DisGeNET - a database of gene-disease associations

List of shared variants

Azoospermia, C0004509

Disease: Male infertility

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
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614