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
rs3819370	IL1R2	0.925	0.040	2	102016112	non coding transcript exon variant	A/G	snv		0.17	2
rs3218974	IL1R2	0.925	0.040	2	102024409	intron variant	A/G	snv		0.27	2
rs3218977	IL1R2	0.807	0.240	2	102024739	3 prime UTR variant	A/G	snv		0.14	6
rs35068180	MMP3	0.851	0.040	11	102845217	upstream gene variant	A/-;AA	delins			5
rs2679895	TGFBRAP1	0.882	0.080	2	105290023	intron variant	C/A;G	snv			3
rs3811046	IL37	0.851	0.160	2	112913801	missense variant	G/A;T	snv	4.0E-06; 0.71		5
rs779229249	GPRC6A	0.925	0.040	6	116807037	missense variant	A/G	snv	4.0E-06		2
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs574301770	ZNF136	0.925	0.040	19	12186844	stop gained	C/G;T	snv	8.0E-05		2
rs142548867	EEFSEC	0.925	0.040	3	128264663	missense variant	C/T	snv	1.8E-03	6.8E-04	2
rs1537415	GLT6D1	0.851	0.040	9	135637876	intron variant	G/C	snv		0.36	4
rs6596473	SLC23A1	0.807	0.120	5	139374887	intron variant	G/C;T	snv			7
rs2569190	CD14 ; TMCO6	0.620	0.560	5	140633331	intron variant	A/G	snv		0.57	39
rs536714306	ADGRG6	0.925	0.040	6	142419955	missense variant	G/A	snv	9.2E-05	2.8E-05	2
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
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs4252120	PLG	0.827	0.080	6	160722576	intron variant	T/C;G	snv	0.21		5
rs1247559	LOC105378091	0.925	0.040	6	160782724	intron variant	C/T	snv		0.17	2
rs1935881	BRINP3	0.882	0.080	1	190097256	downstream gene variant	T/C	snv		0.28	3
rs1342913	BRINP3	0.851	0.040	1	190151895	intron variant	G/A	snv		0.61	4
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs61815643	IL19	0.925	0.040	1	206782771	intron variant	G/A;T	snv			2
rs6667202	IL19	0.882	0.120	1	206783747	intron variant	C/A;T	snv			4