DisGeNET - a database of gene-disease associations

List of associated variants

Subcortical Band Heterotopia, C1848201

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
rs121434484	PAFAH1B1	0.925	0.080	17	2670268	missense variant	T/C	snv			2
rs121434488	PAFAH1B1	0.925	0.080	17	2674110	missense variant	G/A;C	snv	4.0E-06		2
rs121434489	PAFAH1B1	0.925	0.080	17	2638310	stop gained	C/T	snv			2