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
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	43
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs9930506	FTO	0.776	0.360	16	53796553	intron variant	A/G	snv		0.36	16
rs2060793	CYP2R1	0.776	0.240	11	14893764	upstream gene variant	A/G	snv		0.63	11
rs2241767	ADIPOQ-AS1 ; ADIPOQ	0.763	0.440	3	186853407	intron variant	A/G	snv		0.10	10
rs3774261	ADIPOQ ; ADIPOQ-AS1	0.776	0.320	3	186853770	splice region variant	A/G	snv		0.55	10
rs13405728	STON1-GTF2A1L ; LHCGR	0.790	0.200	2	48751020	intron variant	A/G	snv		0.15	8
rs4820599	LRRC75B ; GGT1	0.925	0.160	22	24594246	intron variant	A/G	snv		0.43	6
rs846910	HSD11B1 ; HSD11B1-AS1	0.882	0.160	1	209701909	intron variant	A/G	snv		0.95	6
rs11668344	TMEM150B	0.925	0.120	19	55322296	intron variant	A/G	snv		0.35	4
rs1569198	DKK1	0.851	0.200	10	52316511	intron variant	A/G	snv	0.41	0.42	4
rs1800447	LHB	0.851	0.200	19	49016648	missense variant	A/G	snv	6.5E-02	7.6E-02	4
rs2479106	DENND1A	0.851	0.120	9	123762933	intron variant	A/G	snv		0.44	4
rs34349826	LHB	0.851	0.200	19	49016626	missense variant	A/G	snv	4.9E-02	7.5E-02	4
rs2069408	PMEL ; CDK2	0.925	0.200	12	55970537	intron variant	A/G	snv		0.24	2
rs4629571	CERT1 ; HMGCR	0.925	0.160	5	75362479	intron variant	A/G	snv		8.7E-02	2
rs10505648	LINC02055	1.000	0.120	8	136144207	intron variant	A/G	snv		0.43	1
rs10514258	VCAN-AS1 ; VCAN	1.000	0.120	5	83575938	intron variant	A/G	snv		0.13	1
rs1056917	RUVBL2 ; LHB	1.000	0.120	19	49016209	synonymous variant	A/G	snv	0.61	0.65	1
rs10760321		1.000	0.120	9	124101917	TF binding site variant	A/G	snv		0.30	1
rs10865238	FSHR	1.000	0.120	2	49041665	intron variant	A/G	snv		0.63	1