DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: GDF9 ×

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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
rs1205723048	GDF9	0.882	0.080	5	132862308	missense variant	C/T	snv	4.0E-06		1
rs76349024	GDF9	0.925	0.080	5	132862518	missense variant	G/A	snv	3.4E-04	1.7E-04	1
rs138136756	GDF9	0.882	0.080	5	132864365	missense variant	C/A	snv	1.8E-03	5.3E-04	1
rs61754583	GDF9	1.000		5	132864227	missense variant	G/A;T	snv	2.8E-03; 4.0E-06		1
rs118080183	GDF9	1.000		5	132861671	missense variant	C/G	snv	2.6E-04	9.8E-05	1
rs11544803	GDF9 ; UQCRQ	1.000		5	132867015	missense variant	C/T	snv	4.0E-06		1