DisGeNET - a database of gene-disease associations

List of associated variants

Aggressive Periodontitis, C0031106

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
rs35068180	MMP3	0.851	0.040	11	102845217	upstream gene variant	A/-;AA	delins			5
rs1342913	BRINP3	0.851	0.040	1	190151895	intron variant	G/A	snv		0.61	4
rs1537415	GLT6D1	0.851	0.040	9	135637876	intron variant	G/C	snv		0.36	4
rs2070746	FPR1	0.882	0.040	19	51746449	synonymous variant	G/T	snv	0.34	0.30	3
rs3795391	S100A8	0.882	0.040	1	153390629	non coding transcript exon variant	T/C	snv		8.3E-02	3
rs3806232	S100A8	0.882	0.040	1	153391654	upstream gene variant	T/C	snv		0.15	3
rs104895464	NOD2	0.925	0.040	16	50712283	missense variant	G/A	snv	1.6E-03	1.3E-03	2
rs1247559	LOC105378091	0.925	0.040	6	160782724	intron variant	C/T	snv		0.17	2
rs142548867	EEFSEC	0.925	0.040	3	128264663	missense variant	C/T	snv	1.8E-03	6.8E-04	2
rs145616324	SMPD3	0.925	0.040	16	68371770	missense variant	G/A	snv	3.7E-03	1.3E-03	2
rs2070745	FPR1	0.925	0.040	19	51746694	missense variant	C/G;T	snv	0.40; 1.2E-05		2
rs3218974	IL1R2	0.925	0.040	2	102024409	intron variant	A/G	snv		0.27	2
rs3819370	IL1R2	0.925	0.040	2	102016112	non coding transcript exon variant	A/G	snv		0.17	2
rs4284742	SIGLEC5	0.925	0.040	19	51628480	intron variant	A/G	snv		0.78	2
rs5030879	FPR1	0.925	0.040	19	51746647	synonymous variant	G/A	snv	2.8E-02	9.5E-02	2
rs5030880	FPR1	0.925	0.040	19	51746427	missense variant	T/A	snv	0.13	0.12	2
rs536714306	ADGRG6	0.925	0.040	6	142419955	missense variant	G/A	snv	9.2E-05	2.8E-05	2
rs574301770	ZNF136	0.925	0.040	19	12186844	stop gained	C/G;T	snv	8.0E-05		2
rs61815643	IL19	0.925	0.040	1	206782771	intron variant	G/A;T	snv			2
rs72821893	KRT25	0.925	0.040	17	40751196	missense variant	C/A;T	snv	1.4E-02		2
rs779229249	GPRC6A	0.925	0.040	6	116807037	missense variant	A/G	snv	4.0E-06		2
rs782383264	ELN	0.925	0.040	7	74051750	missense variant	G/A	snv	1.2E-05		2
rs1122900		1.000	0.040	5	36689079	intron variant	A/C	snv		0.42	1
rs2978951		1.000	0.040	8	6965773	downstream gene variant	A/G	snv		0.60	1
rs4970469	OSTCP2	1.000	0.040	1	26986325	non coding transcript exon variant	G/A;T	snv		7.0E-02	1