DisGeNET - a database of gene-disease associations

List of associated variants

Osteosarcoma, C0029463

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
rs55933544	GLDC	1.000	0.040	9	6534080	missense variant	C/T	snv		0.21	1
rs1553260624	H3-3A	0.763	0.080	1	226064454	missense variant	G/A	snv			14
rs2070699	EDN1	0.752	0.080	6	12292539	intron variant	G/C;T	snv	0.45		14
rs367597251	MDM2	0.807	0.080	12	68839587	missense variant	A/G	snv	1.5E-04	5.1E-04	10
rs12894467	MIR300 ; MIR1185-1	0.807	0.080	14	101041390	non coding transcript exon variant	C/T	snv	0.51	0.50	6
rs171140	ERCC2	0.807	0.080	19	45361744	non coding transcript exon variant	C/A	snv	0.58	0.64	6
rs3745406	PRKCG	0.851	0.080	19	53891711	missense variant	T/A;C	snv	4.0E-06; 0.41		6
rs9895829	TP53	0.807	0.080	17	7675361	5 prime UTR variant	A/G	snv		7.4E-02	6
rs1233296947	CTNNB1	0.851	0.080	3	41225746	missense variant	G/A	snv	4.0E-06		5
rs2275008	OSGEP	0.827	0.080	14	20448090	non coding transcript exon variant	T/A;C	snv	4.0E-06; 0.26		5
rs3178250	BMP2	0.827	0.080	20	6779554	3 prime UTR variant	T/C	snv		0.21	5
rs368933511	MRNIP ; SQSTM1	0.851	0.080	5	179836485	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		5
rs6973569	NPSR1-AS1	0.851	0.080	7	34583412	intron variant	G/A	snv		4.7E-02	5
rs10019009	DMP1 ; LOC105377323	0.851	0.080	4	87661983	missense variant	A/G;T	snv	4.0E-06; 0.29		4
rs12602273	TP53	0.851	0.080	17	7679695	intron variant	C/G	snv		0.15	4
rs8064946	TP53 ; WRAP53	0.851	0.080	17	7685993	non coding transcript exon variant	G/C	snv		0.32	4
rs17883862	CHEK2	0.882	0.080	22	28734468	missense variant	G/A;C;T	snv	9.1E-04; 1.2E-05		3
rs863223301	TP53	0.925	0.080	17	7675130	frameshift variant	-/CCATGGC	delins			2
rs1056629	MPHOSPH6	0.827	0.120	16	82148499	3 prime UTR variant	T/C	snv		0.14	6
rs1872328	ACYP2	0.827	0.120	2	54168122	intron variant	G/A	snv		7.3E-02	6
rs1060501205	TP53	0.827	0.120	17	7673749	missense variant	TG/GT	mnv			5
rs1800541	EDN1	0.851	0.120	6	12288986	upstream gene variant	T/G	snv		0.24	5
rs11866002	CNOT1	0.851	0.120	16	58553833	synonymous variant	C/T	snv	0.35	0.39	4
rs1215600806	ALPL	0.851	0.120	1	21564100	missense variant	T/C	snv	1.2E-05		4
rs1416572796	ALPL	0.851	0.120	1	21568170	missense variant	G/T	snv	4.0E-06		4