DisGeNET - a database of gene-disease associations

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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	Num. diseases
rs72656332	COL1A1	0.882	0.120	17	50186895	missense variant	C/T	snv	3
rs121912902	COL1A2	0.925	0.120	7	94424363	missense variant	G/A	snv	2
rs66929517	COL1A1	0.925	0.120	17	50190334	missense variant	C/A;G	snv	2
rs72645333	COL1A1	0.925	0.120	17	50196651	missense variant	C/T	snv	2
rs72648333	COL1A1	0.925	0.120	17	50195099	missense variant	C/A	snv	2
rs72648356	COL1A1	0.925	0.120	17	50194365	missense variant	C/T	snv	2
rs72648363	COL1A1	0.925	0.120	17	50194005	missense variant	C/G	snv	2
rs72651646	COL1A1	0.925	0.120	17	50191462	missense variant	C/T	snv	2
rs72651651	COL1A1	0.925	0.120	17	50191408	missense variant	C/G;T	snv	2
rs72651653	COL1A1	0.925	0.120	17	50191390	missense variant	C/A	snv	2
rs72651657	COL1A1	0.925	0.120	17	50190869	missense variant	C/A	snv	2
rs72653136	COL1A1	0.925	0.120	17	50190027	missense variant	C/T	snv	2
rs72653137	COL1A1	0.925	0.120	17	50190008	missense variant	C/T	snv	2
rs72653143	COL1A1	0.925	0.120	17	50189867	missense variant	C/A	snv	2
rs72653152	COL1A1	0.925	0.120	17	50189520	missense variant	C/A	snv	2
rs72653154	COL1A1	0.925	0.120	17	50189430	missense variant	C/A	snv	2
rs72653166	COL1A1	0.925	0.120	17	50189009	missense variant	C/A	snv	2
rs72653172	COL1A1	0.925	0.120	17	50188768	missense variant	C/T	snv	2
rs72656321	COL1A1	0.925	0.120	17	50187094	missense variant	C/A;T	snv	2
rs72656324	COL1A1	0.925	0.120	17	50187050	missense variant	C/A	snv	2
rs72656330	COL1A1	0.925	0.120	17	50186913	missense variant	C/T	snv	2