DisGeNET - a database of gene-disease associations

List of associated variants

Osteoporosis, C0029456

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
rs140121121	PLS3	1.000	0.080	X	115629281	synonymous variant	T/A	snv	1.5E-02	1.3E-02	1
rs17289263	CER1	1.000	0.080	9	14720363	synonymous variant	T/C	snv	9.2E-02	9.6E-02	1
rs2501431	CNR2	1.000	0.080	1	23875153	synonymous variant	G/A	snv	0.62	0.64	1
rs2502992	CNR2	1.000	0.080	1	23875429	synonymous variant	T/C	snv	4.0E-06; 0.62	0.64	1
rs3003336	CNR2	1.000	0.080	1	23874958	synonymous variant	C/T	snv	0.62	0.64	1
rs545382	LRP5	1.000	0.080	11	68403545	synonymous variant	T/C	snv	0.91	0.83	1
rs72559737	SLC22A11	1.000	0.080	11	64559224	synonymous variant	C/A;G	snv	1.3E-02		1
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv		9.9E-02	74
rs2297480	FDPS	0.851	0.280	1	155309691	non coding transcript exon variant	T/G	snv		0.28	4
rs16965654	RPS16P8	1.000	0.080	17	27280666	non coding transcript exon variant	G/A	snv		1.6E-02	1
rs494453	KRT18P57 ; RAP1A	1.000	0.080	1	111649500	non coding transcript exon variant	T/C	snv		0.41	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53