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	AF EXOME	AF GENOME	Num. diseases
rs72659319	COL1A2	0.763	0.240	7	94426459	missense variant	G/A;C	snv			9
rs66612022	COL1A2	0.763	0.240	7	94409768	missense variant	G/A;T	snv			8
rs67865220	COL1A2	0.851	0.120	7	94409795	missense variant	G/A;C;T	snv			3
rs72656387	COL1A2	0.882	0.120	7	94409367	missense variant	G/A	snv	8.0E-06	7.0E-06	3
rs72656392	COL1A2	0.882	0.120	7	94409732	missense variant	G/A;C	snv			2
rs72658176	COL1A2	0.882	0.120	7	94420604	missense variant	G/A	snv	4.1E-06		2
rs72658193	COL1A2	0.925	0.120	7	94423056	missense variant	G/A	snv			2
rs72659305	COL1A2	0.925	0.120	7	94425127	missense variant	G/A	snv			2
rs121912905	COL1A2	0.925	0.120	7	94408806	missense variant	G/T	snv			1
rs121912906	COL1A2	0.925	0.120	7	94412593	missense variant	G/T	snv			1
rs121912910	COL1A2	0.925	0.120	7	94413083	missense variant	G/A	snv			1
rs1554397369	COL1A2	1.000	0.120	7	94418526	missense variant	G/T	snv			1
rs1562906570	COL1A2	1.000	0.120	7	94424427	missense variant	G/T	snv			1
rs193922159	COL1A2	1.000	0.120	7	94410478	missense variant	C/A;G	snv	5.1E-05		1
rs193922162	COL1A2	1.000	0.120	7	94417733	missense variant	G/A	snv			1
rs193922165	COL1A2	1.000	0.120	7	94425655	missense variant	G/A	snv			1
rs193922166	COL1A2	1.000	0.120	7	94427004	splice acceptor variant	A/-	delins			1
rs193922167	COL1A2	1.000	0.120	7	94427639	frameshift variant	C/-	delins			1
rs193922168	COL1A2	1.000	0.120	7	94427714	missense variant	G/C	snv			1
rs193922173	COL1A2	1.000	0.120	7	94408220	missense variant	G/A	snv			1
rs193922175	COL1A2	1.000	0.120	7	94409374	inframe deletion	GTG/-	delins			1
rs72658154	COL1A2	1.000	0.120	7	94418518	missense variant	G/A;T	snv			1