DisGeNET - a database of gene-disease associations

List of associated variants

Bone Density, C0005938

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 GENOME	Num. diseases
rs754388	RIN3	0.882	0.120	14	92649065	intron variant	G/C;T	snv		7
rs1864325	MAPT	0.882	0.160	17	45900461	intron variant	C/T	snv	0.14	6
rs2252865	RERE	0.851	0.040	1	8362616	intron variant	T/C	snv	0.72	6
rs3130340	TSBP1-AS1	0.851	0.200	6	32276850	intron variant	T/C	snv	0.25	5
rs9303521	LINC02210-CRHR1	0.925	0.120	17	45727828	intron variant	T/C;G	snv	0.60	5
rs9921222	AXIN1	0.925	0.120	16	325782	intron variant	C/T	snv	0.51	5
rs1038304	CCDC170 ; LOC107986528	0.882	0.160	6	151612040	intron variant	A/G	snv	0.58	4
rs2414095	CYP19A1 ; MIR4713HG			15	51232095	intron variant	A/G	snv	0.69	4
rs72699866	RIN3			14	92648442	intron variant	G/A	snv	0.14	4
rs7776725	FAM3C	1.000	0.080	7	121393067	intron variant	T/C	snv	0.28	4
rs10037512	MEF2C-AS1			5	89058858	intron variant	T/A;C	snv		3
rs10085588	LOC105375412 ; SEM1 ; LOC105375411	1.000	0.080	7	96508362	intron variant	A/G	snv	0.72	3
rs1107748	LINC02594	1.000	0.080	17	43696446	intron variant	T/C	snv	0.54	3
rs12283755	PPP6R3			11	68604190	intron variant	A/G	snv	0.24	3
rs13245690	CPED1			7	121145010	intron variant	A/G	snv	0.32	3
rs1366594	MEF2C-AS1			5	89080244	intron variant	A/C	snv	0.57	3
rs1595824	PLCL1			2	198009282	intron variant	C/A;T	snv		3
rs2016266	SP7	1.000	0.080	12	53334171	intron variant	G/A;C	snv		3
rs2235529	WNT4	1.000	0.040	1	22123994	intron variant	C/T	snv	0.13	3
rs2273061	JAG1	1.000	0.080	20	10658895	intron variant	G/A	snv	0.46	3
rs4580892				6	127088737	intron variant	C/T	snv	0.32	3
rs4720530	WIPI2			7	5212643	intron variant	C/T	snv	0.55	3
rs4870044	CCDC170	1.000	0.080	6	151580274	intron variant	C/T	snv	0.44	3
rs7466269	FUBP3			9	130588697	intron variant	A/G	snv	0.33	3
rs917727	FAM3C			7	121378525	intron variant	C/A;T	snv	0.33	3