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
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
rs536714306	ADGRG6	0.925	0.040	6	142419955	missense variant	G/A	snv	9.2E-05	2.8E-05	2
rs13005285	ATG16L1	0.882	0.080	2	233286311	intron variant	T/G	snv		0.56	3
rs1342913	BRINP3	0.851	0.040	1	190151895	intron variant	G/A	snv		0.61	4
rs1935881	BRINP3	0.882	0.080	1	190097256	downstream gene variant	T/C	snv		0.28	3
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs2569190	CD14 ; TMCO6	0.620	0.560	5	140633331	intron variant	A/G	snv		0.57	39
rs1333048	CDKN2B-AS1	0.683	0.320	9	22125348	intron variant	A/C	snv		0.44	24
rs1333042	CDKN2B-AS1	0.827	0.120	9	22103814	intron variant	A/G	snv		0.63	7
rs496892	CDKN2B-AS1	0.827	0.160	9	22024352	intron variant	C/T	snv		0.40	6
rs104894211	CTSC	0.882	0.120	11	88294358	missense variant	T/C	snv	1.2E-05		3
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1800972	DEFB1	0.708	0.440	8	6877901	5 prime UTR variant	C/G;T	snv	0.79		16
rs1799946	DEFB1	0.732	0.360	8	6877909	5 prime UTR variant	C/T	snv	0.36	0.41	13
rs142548867	EEFSEC	0.925	0.040	3	128264663	missense variant	C/T	snv	1.8E-03	6.8E-04	2
rs782383264	ELN	0.925	0.040	7	74051750	missense variant	G/A	snv	1.2E-05		2
rs1042229	FPR1	0.790	0.280	19	51746419	missense variant	A/C;G	snv	0.32; 0.13		7
rs2070746	FPR1	0.882	0.040	19	51746449	synonymous variant	G/T	snv	0.34	0.30	3
rs2070745	FPR1	0.925	0.040	19	51746694	missense variant	C/G;T	snv	0.40; 1.2E-05		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
rs1537415	GLT6D1	0.851	0.040	9	135637876	intron variant	G/C	snv		0.36	4
rs779229249	GPRC6A	0.925	0.040	6	116807037	missense variant	A/G	snv	4.0E-06		2