DisGeNET - a database of gene-disease associations

List of associated variants

Polycystic Ovary Syndrome, C0032460

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
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs324420	FAAH	0.637	0.440	1	46405089	missense variant	C/A	snv	0.24	0.26	48
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs505151	PCSK9	0.732	0.360	1	55063514	missense variant	G/A	snv	0.95	0.90	18
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv			16
rs6688832	H6PD	0.752	0.440	1	9263851	missense variant	G/A;C	snv	0.28; 1.2E-04		10
rs562556	PCSK9	0.827	0.280	1	55058564	missense variant	G/A	snv	0.86	0.83	8
rs2815752	LOC105378797	0.925	0.200	1	72346757	intron variant	G/A	snv		0.62	7
rs12086634	HSD11B1-AS1 ; HSD11B1	0.827	0.280	1	209706914	intron variant	T/G	snv	0.21	0.20	6
rs846910	HSD11B1 ; HSD11B1-AS1	0.882	0.160	1	209701909	intron variant	A/G	snv		0.95	6
rs17368528	H6PD	0.827	0.400	1	9264154	missense variant	C/A;T	snv	0.12	8.9E-02	5
rs4889	KISS1	0.882	0.160	1	204190659	missense variant	G/A;C	snv	5.2E-06; 0.29		5
rs779829591	F3	0.827	0.320	1	94532395	missense variant	G/A	snv	4.0E-06		5
rs34603401	H6PD	0.882	0.280	1	9245386	missense variant	A/C	snv	0.12	0.10	4
rs397517892	LMNA	0.851	0.240	1	156136419	missense variant	C/T	snv	9.9E-06	1.4E-05	4
rs4844880	HSD11B1-AS1 ; HSD11B1	0.882	0.240	1	209697571	intron variant	A/T	snv		0.70	4
rs3753519	HSD11B1 ; HSD11B1-AS1	0.925	0.200	1	209702170	intron variant	T/A;C	snv			2