DisGeNET - a database of gene-disease associations

List of associated variants

Osteitis Deformans, C0029401

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
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs781049584	APP	0.724	0.280	21	26021917	missense variant	T/G	snv	8.2E-06	7.0E-06	18
rs387906789	VCP	0.742	0.200	9	35065352	missense variant	G/A;C	snv	4.0E-06		14
rs1864183	ATG10	0.742	0.240	5	82253397	missense variant	C/T	snv	0.52	0.40	12
rs1805034	TNFRSF11A	0.742	0.360	18	62360008	missense variant	C/T	snv	0.54	0.56	12
rs121909330	VCP	0.752	0.200	9	35065364	missense variant	G/A;C;T	snv			11
rs121909334	VCP	0.752	0.200	9	35065255	missense variant	C/T	snv	1.6E-05		10
rs267606673	ATP7A ; PGK1	0.776	0.240	X	78029314	missense variant	C/T	snv			9
rs104893941	MRNIP ; SQSTM1	0.776	0.200	5	179836445	missense variant	C/T	snv	9.8E-04	1.3E-03	9
rs121909335	VCP	0.776	0.200	9	35065351	missense variant	C/T	snv	8.0E-06		9
rs5742915	PML	0.925	0.080	15	74044292	missense variant	T/C;G	snv	0.35; 4.0E-06		7
rs754388	RIN3	0.882	0.120	14	92649065	intron variant	G/C;T	snv			7
rs2245214	ATG5	0.827	0.240	6	106214866	intron variant	C/G	snv		0.42	6
rs770237371	ASPSCR1	0.827	0.160	17	81996616	missense variant	A/C;G	snv	4.0E-06; 1.2E-05		5
rs368933511	MRNIP ; SQSTM1	0.851	0.080	5	179836485	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		5
rs35211496	TNFRSF11A	0.851	0.200	18	62354528	missense variant	C/T	snv	0.12	0.12	5
rs121909331	VCP	0.851	0.200	9	35064167	missense variant	G/T	snv			5
rs3018362		0.882	0.120	18	62414860	upstream gene variant	A/G	snv		0.67	4
rs1569198	DKK1	0.851	0.200	10	52316511	intron variant	A/G	snv	0.41	0.42	4
rs7528153	VAV3	0.925	0.080	1	107765105	missense variant	T/A	snv	0.58	0.64	4
rs484959		0.882	0.120	1	109823461	upstream gene variant	T/A;C	snv			3
rs1489694587	DMD	0.882	0.120	X	31172385	missense variant	A/C	snv			3