DisGeNET - a database of gene-disease associations

List of associated variants

Osteopenia, C0029453

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
rs1057516036	COL1A2	0.925	0.160	7	94423065	missense variant	G/A	snv			4
rs4988321	LRP5	0.851	0.160	11	68406721	missense variant	G/A;C	snv	3.8E-02		4
rs1057518930	COL1A1	1.000	0.080	17	50197009	splice donor variant	C/G	snv			3
rs2273073	BMP2	0.882	0.120	20	6770235	missense variant	T/C;G	snv	2.4E-02		3
rs9536314	KL	0.925	0.160	13	33054001	missense variant	T/A;G	snv	0.14		3
rs121909149	SH3BP2	0.925	0.160	4	2831573	missense variant	G/A;C	snv			2
rs312009	LRP5	0.925	0.080	11	68309770	upstream gene variant	T/A;C	snv			2
rs72648365	COL1A1	0.925	0.240	17	50193990	missense variant	G/A;C	snv			2
rs773472534	OPA1-AS1 ; OPA1	0.925	0.120	3	193618885	synonymous variant	G/A	snv	2.8E-05		2
rs1473998316	COL1A1	1.000	0.080	17	50195926	synonymous variant	A/G	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs1423415130	XYLT2	0.851	0.120	17	50360241	missense variant	G/A	snv		7.0E-06	6
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1335534133	DMD	1.000	0.080	X	32485069	missense variant	G/A	snv		9.5E-06	1
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs780508132	DMD	0.925	0.080	X	32386352	missense variant	T/A	snv	5.5E-06	1.9E-05	2
rs72656307	COL1A1	0.925	0.240	17	50187968	missense variant	G/A	snv	2.4E-05	2.1E-05	2
rs527624522	EXT2	0.925	0.080	11	44107723	missense variant	C/T	snv	6.4E-05	2.1E-05	5
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs104893941	MRNIP ; SQSTM1	0.776	0.200	5	179836445	missense variant	C/T	snv	9.8E-04	1.3E-03	9
rs28360457	P2RX7 ; LOC105370032	0.882	0.200	12	121175426	missense variant	G/A	snv	8.6E-03	1.1E-02	3
rs1653624	P2RX7 ; LOC105370032	0.925	0.120	12	121184717	missense variant	T/A	snv		1.5E-02	2
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47