DisGeNET - a database of gene-disease associations

List of associated variants

Silicosis, C0037116

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
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs2076295	DSP	0.882	0.080	6	7562999	intron variant	T/G	snv		0.46	5
rs2609255	FAM13A	0.882	0.080	4	88890044	intron variant	G/T	snv		0.73	4
rs73329476		0.925	0.080	12	69110303	regulatory region variant	C/T	snv		0.16	2
rs2744371	DSP	0.925	0.080	6	7553941	intron variant	A/C;G	snv			2
rs12812500	CPM	1.000	0.080	12	68963451	intron variant	C/G	snv		0.20	1
rs2076304	DSP	1.000	0.080	6	7572029	synonymous variant	A/G;T	snv	0.76; 4.0E-06		1