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
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv		0.18	36
rs4986938	ESR2	0.641	0.600	14	64233098	3 prime UTR variant	C/T	snv	0.31	0.33	35
rs2066853	AHR	0.653	0.600	7	17339486	missense variant	G/A	snv	0.15	0.22	34
rs1256049	ESR2	0.645	0.560	14	64257333	synonymous variant	C/T	snv	6.7E-02	6.3E-02	32
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs1801260	CLOCK ; TMEM165	0.695	0.280	4	55435202	3 prime UTR variant	A/G	snv		0.25	28
rs6259	SHBG	0.658	0.400	17	7633209	missense variant	G/A	snv	8.9E-02	8.1E-02	27
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs6166	FSHR	0.708	0.240	2	48962782	missense variant	C/T	snv	0.57	0.57	17
rs1799930	NAT2	0.716	0.400	8	18400593	missense variant	G/A	snv	0.27	0.27	17
rs3749474	TMEM165 ; CLOCK	0.724	0.320	4	55434518	3 prime UTR variant	C/T	snv		0.33	17
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs1799931	NAT2	0.742	0.320	8	18400860	missense variant	G/A	snv	5.8E-02	3.9E-02	14
rs2227956	HSPA1L	0.752	0.400	6	31810495	missense variant	G/A;C;T	snv	0.87		12
rs727428		0.882	0.200	17	7634474	downstream gene variant	T/C	snv		0.55	11
rs1550117	DNMT3A	0.790	0.320	2	25343038	upstream gene variant	A/G;T	snv			11
rs1805388	LIG4	0.790	0.120	13	108211243	missense variant	G/A	snv	0.18	0.16	11
rs1799929	NAT2	0.776	0.240	8	18400484	synonymous variant	C/T	snv	0.36	0.36	11
rs887303970	SOD3	0.776	0.280	4	24799565	missense variant	C/T	snv	8.8E-06	7.0E-06	10