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
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1342913	BRINP3	0.851	0.040	1	190151895	intron variant	G/A	snv		0.61	4
rs2981573	IL20	0.882	0.160	1	206867232	intron variant	G/A	snv		0.77	4
rs6667202	IL19	0.882	0.120	1	206783747	intron variant	C/A;T	snv			4
rs1935881	BRINP3	0.882	0.080	1	190097256	downstream gene variant	T/C	snv		0.28	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
rs61815643	IL19	0.925	0.040	1	206782771	intron variant	G/A;T	snv			2
rs4970469	OSTCP2	1.000	0.040	1	26986325	non coding transcript exon variant	G/A;T	snv		7.0E-02	1
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs3218977	IL1R2	0.807	0.240	2	102024739	3 prime UTR variant	A/G	snv		0.14	6
rs3811046	IL37	0.851	0.160	2	112913801	missense variant	G/A;T	snv	4.0E-06; 0.71		5
rs13005285	ATG16L1	0.882	0.080	2	233286311	intron variant	T/G	snv		0.56	3
rs2241879	SCARNA5 ; ATG16L1	0.882	0.080	2	233274822	intron variant	G/A	snv	0.45	0.44	3
rs2679895	TGFBRAP1	0.882	0.080	2	105290023	intron variant	C/A;G	snv			3
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
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs142548867	EEFSEC	0.925	0.040	3	128264663	missense variant	C/T	snv	1.8E-03	6.8E-04	2
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs2569190	CD14 ; TMCO6	0.620	0.560	5	140633331	intron variant	A/G	snv		0.57	39
rs6596473	SLC23A1	0.807	0.120	5	139374887	intron variant	G/C;T	snv			7
rs1122900		1.000	0.040	5	36689079	intron variant	A/C	snv		0.42	1
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169