DisGeNET - a database of gene-disease associations

List of associated variants

EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2, C4310681

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
rs1057515579	C1R	0.925	0.160	12	7088856	missense variant	A/G	snv			2
rs1057518643	C1R	0.925	0.160	12	7088886	missense variant	T/C	snv			2
rs1057518645	C1R	0.925	0.160	12	7086423	missense variant	C/A	snv			2
rs1057518646	C1R	0.925	0.160	12	7088721	protein altering variant	GCACTTGATGA/TGTCC	delins			2
rs1057519026	C1R	0.925	0.160	12	7088865	missense variant	C/T	snv			2
rs1057519576	C1R	0.925	0.160	12	7088850	missense variant	T/C	snv			2
rs1057519577	C1R	0.925	0.160	12	7088636	missense variant	A/G	snv			2
rs1057519578	C1R	0.925	0.160	12	7086404	stop gained	C/G;T	snv			2
rs1057519579	C1R	0.925	0.160	12	7086383	missense variant	G/C	snv			2
rs1060499554	C1R	0.925	0.160	12	7082077	missense variant	A/G	snv			2
rs760277934	C1R	0.925	0.160	12	7088853	missense variant	C/G;T	snv	4.1E-06		2
rs769707492	C1R	0.925	0.160	12	7088721	stop gained	G/A;C;T	snv	4.1E-06		2
rs1057519025	C1R ; C1RL	0.925	0.160	12	7091533	missense variant	GA/AT	mnv			2
rs1057519580	C1R	1.000		12	7085919	protein altering variant	GTAGTACTGGATACGG/TATTACATGA	delins			1
rs886040974	C1S	1.000		12	7066591	inframe deletion	TGT/-	del			1
rs886040975	C1S	1.000		12	7066526	missense variant	T/C	snv			1