DisGeNET - a database of gene-disease associations

List of associated variants

Osteogenesis imperfecta type III (disorder), C0268362

Source: ALL

Results per page

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
rs1554200371	TENT5A	0.925	0.120	6	81750332	missense variant	T/C	snv			2
rs66612022	COL1A2	0.763	0.240	7	94409768	missense variant	G/A;T	snv			9
rs72659319	COL1A2	0.763	0.240	7	94426459	missense variant	G/A;C	snv			9
rs67543427	COL1A2	0.776	0.240	7	94410457	missense variant	G/A;T	snv			8
rs67865220	COL1A2	0.851	0.120	7	94409795	missense variant	G/A;C;T	snv			4
rs66619856	COL1A2	0.882	0.120	7	94410278	missense variant	G/A;T	snv			3
rs66773001	COL1A2	0.882	0.120	7	94410251	missense variant	G/A;T	snv			3
rs66883877	COL1A2	0.882	0.160	7	94419499	missense variant	G/A;C;T	snv	4.0E-06	1.4E-05	3
rs72658118	COL1A2	0.882	0.120	7	94412095	missense variant	G/A	snv			3
rs72658176	COL1A2	0.882	0.120	7	94420604	missense variant	G/A	snv	4.1E-06		3
rs72659335	COL1A2	0.882	0.120	7	94427288	missense variant	G/A;T	snv			3
rs768171831	COL1A2	0.882	0.120	7	94426011	missense variant	C/T	snv	1.2E-04; 4.0E-06	5.6E-05	3
rs1114167414	COL1A2	0.925	0.120	7	94426433	missense variant	G/A	snv			2
rs1114167415	COL1A2	0.925	0.120	7	94426514	missense variant	G/A;C	snv			2
rs121912905	COL1A2	0.925	0.120	7	94408806	missense variant	G/T	snv			2
rs121912907	COL1A2	0.925	0.120	7	94415263	missense variant	G/T	snv			2
rs121912911	COL1A2	0.925	0.200	7	94426442	missense variant	G/C	snv			2
rs72659304	COL1A2	0.925	0.120	7	94425118	missense variant	G/A	snv			2
rs1114167412	COL1A2	1.000	0.120	7	94410492	missense variant	G/C	snv			1
rs1554396283	COL1A2	1.000	0.120	7	94410926	missense variant	G/T	snv			1
rs1800250	COL1A2	1.000	0.120	7	94427801	missense variant	A/C	snv			1
rs267606742	COL1A2	1.000	0.120	7	94427628	missense variant	G/A	snv			1
rs67609234	COL1A2	1.000	0.120	7	94425832	missense variant	G/A;T	snv			1
rs67729041	COL1A2	1.000	0.120	7	94409778	missense variant	G/A;T	snv			1
rs72656402	COL1A2	1.000	0.120	7	94410429	missense variant	G/T	snv			1