DisGeNET - a database of gene-disease associations

List of associated variants

Porencephaly, Type 1, Autosomal Dominant, C4551998

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
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs113994109	COL4A1	0.827	0.200	13	110179370	missense variant	C/T	snv			5
rs672601347	COL4A1	0.925	0.120	13	110179298	missense variant	C/G;T	snv			3
rs113994108	COL4A1	0.925	0.200	13	110181326	missense variant	C/T	snv			2
rs113994111	COL4A1	0.925	0.200	13	110174463	missense variant	C/T	snv			2
rs113994112	COL4A1	0.925	0.200	13	110170583	missense variant	C/T	snv			2
rs113994113	COL4A1	0.925	0.200	13	110162425	missense variant	C/G	snv			2
rs113994114	COL4A1	0.925	0.200	13	110155300	missense variant	C/G	snv			2
rs672601346	COL4A1	0.925	0.200	13	110179352	missense variant	C/T	snv			2
rs672601349	COL4A1	0.925	0.160	13	110181363	missense variant	C/T	snv			2
rs1057518654	COL4A1	1.000	0.120	13	110172721	splice region variant	T/C	snv			1
rs113994110	COL4A1	1.000	0.120	13	110178968	missense variant	C/T	snv			1
rs121912857	COL4A1	1.000	0.120	13	110187181	missense variant	C/G;T	snv	4.0E-06		1
rs1555303720	COL4A1	1.000	0.120	13	110183010	missense variant	C/T	snv			1
rs672601348	COL4A1	1.000	0.120	13	110152381	missense variant	G/A;C	snv	8.0E-06		1