DisGeNET - a database of gene-disease associations

List of associated variants

Male infertility, C0021364

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
rs11710967	DAZL			3	16598568	missense variant	T/A;C	snv	0.11		1
rs9814870				3	95969999	intergenic variant	A/G;T	snv		0.19	1
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs1801260	CLOCK ; TMEM165	0.695	0.280	4	55435202	3 prime UTR variant	A/G	snv		0.25	28
rs3749474	TMEM165 ; CLOCK	0.724	0.320	4	55434518	3 prime UTR variant	C/T	snv		0.33	17
rs887303970	SOD3	0.776	0.280	4	24799565	missense variant	C/T	snv	8.8E-06	7.0E-06	10
rs3819392	KIT	1.000	0.040	4	54660528	intron variant	G/A	snv		0.28	2
rs4045481	RNF212	1.000	0.040	4	1096837	stop gained	G/A	snv	0.64	0.57	2
rs3817444	CLOCK			4	55509814	intron variant	A/C	snv		0.69	1
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2292596	AHRR	0.827	0.240	5	422840	missense variant	C/G;T	snv	0.38; 4.0E-06		7
rs2631367	MIR3936HG ; SLC22A5	0.925	0.120	5	132369766	5 prime UTR variant	C/G	snv		0.59	4
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs2227956	HSPA1L	0.752	0.400	6	31810495	missense variant	G/A;C;T	snv	0.87		12
rs1061581	HSPA1A ; HSPA1L	0.827	0.200	6	31816809	synonymous variant	G/A	snv			6
rs2075789	MSH5-SAPCD1 ; LOC105375020 ; MSH5	0.882	0.120	6	31740551	missense variant	C/T	snv	0.13	9.1E-02	6
rs184752888	BRD2	0.882	0.120	6	32977847	missense variant	G/A	snv			4
rs724078		0.925	0.040	6	29521271	intergenic variant	G/A	snv		0.41	3
rs36069724	CRISP2			6	49695854	missense variant	A/G	snv	1.7E-02	1.3E-02	2