DisGeNET - a database of gene-disease associations

List of associated variants

Pain, C0030193

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
rs13361160		1.000	0.040	5	10169711	downstream gene variant	T/C	snv		0.34	2
rs11674595	IL1R2	0.763	0.200	2	101994530	intron variant	T/C	snv		0.22	13
rs1536309	MIR146B	0.851	0.160	10	102435445	upstream gene variant	A/G	snv		0.32	7
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs72520913	MMP3			11	102845217	upstream gene variant	-/C;G	ins			1
rs1676486	COL11A1	0.851	0.120	1	102888582	missense variant	A/G;T	snv	0.80; 4.0E-06		7
rs1277774683	DNM2			19	10830162	missense variant	A/C	snv	4.0E-06	2.1E-05	1
rs3750625	ADRA2A			10	111079843	3 prime UTR variant	C/A	snv		8.7E-02	2
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs6276	DRD2	0.807	0.320	11	113410675	3 prime UTR variant	C/T	snv		0.54	8
rs6277	DRD2	0.689	0.480	11	113412737	synonymous variant	G/A	snv	0.41	0.38	36
rs6275	DRD2	0.851	0.160	11	113412755	synonymous variant	A/G	snv	0.64	0.58	7
rs1176744	HTR3B	0.708	0.240	11	113932306	missense variant	A/C	snv	0.33	0.36	19
rs1801252	ADRB1	0.724	0.320	10	114044277	missense variant	A/G	snv	0.15	0.17	17
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs6280	DRD3	0.602	0.520	3	114171968	missense variant	C/T	snv	0.63	0.54	57
rs104894379	TBX5	1.000	0.120	12	114398675	stop gained	G/A;C;T	snv			2
rs11466112	NGF-AS1 ; NGF	1.000	0.080	1	115286135	missense variant	G/A	snv	1.6E-05	7.0E-06	3
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1200746244	MTHFR	0.807	0.080	1	11801287	missense variant	C/T	snv	4.0E-06	7.0E-06	11
rs17122021				11	118274971	regulatory region variant	C/A;T	snv			1
rs2073618	COLEC10 ; TNFRSF11B	0.716	0.480	8	118951813	missense variant	G/C	snv	0.52	0.60	19
rs1718125	LOC105370032 ; P2RX7	0.851	0.200	12	121155216	intron variant	C/T	snv	0.15	0.19	6
rs796590326	P2RX7 ; LOC105370032	0.851	0.200	12	121162449	missense variant	GT/AC	mnv			5