DisGeNET - a database of gene-disease associations

List of associated variants

Dementia, Vascular, C0011269

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
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614