DisGeNET - a database of gene-disease associations

List of associated variants

Oligospermia, C0028960

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
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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
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
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
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
rs696	NFKBIA	0.708	0.520	14	35401887	3 prime UTR variant	C/T	snv		0.45	22
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs6166	FSHR	0.708	0.240	2	48962782	missense variant	C/T	snv	0.57	0.57	17
rs16999593	DNMT1	0.742	0.240	19	10180505	missense variant	T/C	snv	2.4E-02	9.6E-03	14
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs886039769	NR5A1	0.807	0.160	9	124500686	missense variant	G/A	snv			10
rs995030	KITLG	0.776	0.320	12	88496894	3 prime UTR variant	A/G	snv		0.67	9
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
rs104893837	GNRHR ; UBA6-AS1	0.807	0.160	4	67740682	missense variant	C/T	snv	1.8E-03	1.3E-03	6