DisGeNET - a database of gene-disease associations

List of associated variants

Periodontitis, C0031099

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
rs1035029	C5	1.000	0.040	9	120980540	intron variant	G/A	snv		0.63	2
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
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
rs3102735	COLEC10 ; TNFRSF11B	0.752	0.400	8	118952831	upstream gene variant	T/C	snv		0.17	12
rs242016	CRACR2A	0.882	0.040	12	3679094	synonymous variant	G/A	snv	0.13	0.13	3
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs2227532	CXCL8	0.882	0.120	4	73739815	upstream gene variant	T/C	snv		2.9E-02	3
rs1126580	CXCR2	0.882	0.120	2	218136243	3 prime UTR variant	G/A;T	snv			3
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
rs11362	DEFB1	0.742	0.360	8	6877877	5 prime UTR variant	C/T	snv	0.43	0.40	13
rs1799946	DEFB1	0.732	0.360	8	6877909	5 prime UTR variant	C/T	snv	0.36	0.41	13
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs2125685	FCGR2B	1.000	0.040	1	161673254	intron variant	A/G;T	snv	0.20	0.43	1
rs396991	FCGR3A	0.742	0.480	1	161544752	missense variant	A/C;G;T	snv	0.33; 4.1E-06		14
rs200215055	FCGR3B	0.742	0.400	1	161626196	missense variant	C/A;G;T	snv	1.5E-03; 1.2E-05; 4.0E-06		11
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs1537415	GLT6D1	0.851	0.040	9	135637876	intron variant	G/C	snv		0.36	4
rs2392510	GPR141 ; EPDR1	1.000	0.040	7	37706967	intron variant	C/T	snv		0.47	1
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs30461	IFNL1	0.827	0.120	19	39298475	missense variant	A/G	snv	0.13	0.25	5
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs148704956	IL17A	0.716	0.360	6	52187772	missense variant	A/G	snv	8.0E-06	7.0E-06	19