DisGeNET - a database of gene-disease associations

List of associated variants

Aggressive Periodontitis, C0031106

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
rs1042229	FPR1	0.790	0.280	19	51746419	missense variant	A/C;G	snv	0.32; 0.13		7
rs104894211	CTSC	0.882	0.120	11	88294358	missense variant	T/C	snv	1.2E-05		3
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs104895464	NOD2	0.925	0.040	16	50712283	missense variant	G/A	snv	1.6E-03	1.3E-03	2
rs1122900		1.000	0.040	5	36689079	intron variant	A/C	snv		0.42	1
rs1247559	LOC105378091	0.925	0.040	6	160782724	intron variant	C/T	snv		0.17	2
rs13005285	ATG16L1	0.882	0.080	2	233286311	intron variant	T/G	snv		0.56	3
rs1333042	CDKN2B-AS1	0.827	0.120	9	22103814	intron variant	A/G	snv		0.63	7
rs1333048	CDKN2B-AS1	0.683	0.320	9	22125348	intron variant	A/C	snv		0.44	24
rs1342913	BRINP3	0.851	0.040	1	190151895	intron variant	G/A	snv		0.61	4
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
rs1537415	GLT6D1	0.851	0.040	9	135637876	intron variant	G/C	snv		0.36	4
rs1799946	DEFB1	0.732	0.360	8	6877909	5 prime UTR variant	C/T	snv	0.36	0.41	13
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1800630	TNF ; LOC100287329 ; LTA	0.701	0.480	6	31574699	upstream gene variant	C/A	snv		0.14	17
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800972	DEFB1	0.708	0.440	8	6877901	5 prime UTR variant	C/G;T	snv	0.79		16
rs1935881	BRINP3	0.882	0.080	1	190097256	downstream gene variant	T/C	snv		0.28	3
rs2070745	FPR1	0.925	0.040	19	51746694	missense variant	C/G;T	snv	0.40; 1.2E-05		2
rs2070746	FPR1	0.882	0.040	19	51746449	synonymous variant	G/T	snv	0.34	0.30	3
rs2241879	SCARNA5 ; ATG16L1	0.882	0.080	2	233274822	intron variant	G/A	snv	0.45	0.44	3
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105