DisGeNET - a database of gene-disease associations

List of associated variants

Brain Diseases, C0006111

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
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs2016520	PPARD	0.752	0.320	6	35411001	5 prime UTR variant	C/T	snv		0.78	16
rs12524487		0.925	0.160	6	31386461	upstream gene variant	C/T	snv		5.9E-02	3
rs2433322	PDLIM5	0.925	0.040	4	94458590	intron variant	A/G	snv		0.37	3
rs9366782		1.000	0.080	6	31360768	upstream gene variant	A/T	snv		9.4E-02	2
rs1280914556	KHDRBS1			1	32014269	missense variant	A/G	snv		2.1E-05	2
rs756915170	NUP62 ; IL4I1			19	49909654	missense variant	T/C	snv	4.0E-06		2
rs961750842	KHDRBS1			1	32014200	missense variant	C/G	snv		7.0E-06	1