DisGeNET - a database of gene-disease associations

List of shared variants

Azoospermia, C0004509

Disease: Male infertility

Source: ALL

Results per page

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs6166	FSHR	0.708	0.240	2	48962782	missense variant	C/T	snv	0.57	0.57	17
rs175080	MLH3	0.776	0.240	14	75047125	missense variant	G/A	snv	0.40	0.43	9
rs2477686	PLCH2	0.807	0.040	1	2461209	intron variant	G/C	snv		0.64	7
rs2075789	MSH5-SAPCD1 ; LOC105375020 ; MSH5	0.882	0.120	6	31740551	missense variant	C/T	snv	0.13	9.1E-02	6
rs55763075	MTHFR ; C1orf167	0.827	0.120	1	11790377	3 prime UTR variant	C/T	snv		2.1E-05	6
rs10842262	SOX5	0.851	0.040	12	24031610	intron variant	G/C	snv		0.43	5
rs121918346	DAZL	0.882	0.040	3	16598169	missense variant	T/C;G	snv	8.0E-06		5
rs6080550	LOC100289473	0.851	0.040	20	1778944	intron variant	C/G;T	snv		9.6E-02	5
rs12097821		0.882	0.040	1	106793679	regulatory region variant	G/A;T	snv			4
rs1059060	PMS2	0.925	0.040	7	5977709	missense variant	T/A;C	snv			3
rs11204546	OR2W3	0.925	0.040	1	247896410	missense variant	T/C;G	snv	0.58; 4.0E-06		3
rs12348	TUSC1	0.925	0.040	9	25677217	3 prime UTR variant	T/C	snv		0.44	3
rs12870438	EPSTI1	0.925	0.040	13	42906069	intron variant	G/A	snv		0.27	3
rs188541504	THEG	0.925	0.040	19	374362	missense variant	C/T	snv	8.0E-05	4.9E-05	3
rs2070565	DNMT3L	0.925	0.080	21	44261270	splice region variant	T/C	snv	0.70	0.75	3
rs553509	H2BW1	0.925	0.040	X	104013293	missense variant	T/C	snv		0.38	3