DisGeNET - a database of gene-disease associations

List of shared variants

Male infertility, C0021364

Disease: Ovarian Failure, Premature

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
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv		0.18	36
rs6166	FSHR	0.708	0.240	2	48962782	missense variant	C/T	snv	0.57	0.57	17
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs184752888	BRD2	0.882	0.120	6	32977847	missense variant	G/A	snv			4
rs1394205	FSHR	0.925	0.120	2	49154446	5 prime UTR variant	C/T	snv	0.32	0.28	3