DisGeNET - a database of gene-disease associations

List of associated variants

Stiff-Person Syndrome, C0085292

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
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs12566888	PEAR1	0.807	0.280	1	156899255	intron variant	G/T	snv		0.26	7
rs1671152	LOC107985325 ; GP6	0.882	0.160	19	55014977	missense variant	T/G	snv	0.85	0.81	5
rs777692567	PLAT	0.827	0.200	8	42182845	missense variant	G/A	snv	4.0E-05	1.4E-05	5
rs9550270		0.925	0.120	13	113872798	upstream gene variant	T/A;G	snv			2
rs12610286	GP6 ; LOC107985325	0.925	0.120	19	55030031	intron variant	A/G	snv		0.32	2
rs1654416	GP6 ; LOC107985325	0.925	0.120	19	55018667	missense variant	C/G;T	snv	4.0E-06; 0.81		2
rs1671153	GP6 ; LOC107985325	0.925	0.120	19	55015821	intron variant	G/T	snv		0.74	2
rs2304167	GP6 ; LOC107985325	0.925	0.120	19	55015713	missense variant	C/T	snv	0.80	0.74	2