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
rs235764	BMP2	0.882	0.040	20	6773599	intron variant	G/A	snv		0.31	3
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	16
rs121908698	CHEK2	0.851	0.200	22	28725242	splice donor variant	C/A;T	snv	4.0E-06; 1.3E-04		7
rs730881701	CHEK2	0.827	0.200	22	28725278	stop gained	G/A;C	snv	2.4E-05	7.0E-06	6
rs200917541	CHEK2	0.851	0.200	22	28725270	stop gained	G/A;T	snv			5
rs560596101	CHEK2	0.851	0.200	22	28725241	splice donor variant	A/C;G;T	snv	4.0E-06		5
rs587781705	CHEK2	0.851	0.200	22	28734506	stop gained	A/C	snv			5
rs587782401	CHEK2	0.851	0.200	22	28734401	splice donor variant	A/G;T	snv	4.0E-06; 6.8E-05		5
rs17883862	CHEK2	0.882	0.080	22	28734468	missense variant	G/A;C;T	snv	9.1E-04; 1.2E-05		3
rs137853008	CHEK2	1.000	0.040	22	28734673	missense variant	C/A	snv			1
rs11866002	CNOT1	0.851	0.120	16	58553833	synonymous variant	C/T	snv	0.35	0.39	4
rs1061970	COL1A1	0.882	0.040	17	50184491	3 prime UTR variant	A/G	snv		0.13	3
rs2075559	COL1A1	0.882	0.040	17	50189930	intron variant	G/A;C;T	snv	0.52; 4.0E-06		3
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs886041906	CTLA4	0.882	0.200	2	203868002	stop gained	G/A	snv			6
rs1233296947	CTNNB1	0.851	0.080	3	41225746	missense variant	G/A	snv	4.0E-06		5
rs10019009	DMP1 ; LOC105377323	0.851	0.080	4	87661983	missense variant	A/G;T	snv	4.0E-06; 0.29		4
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs2070699	EDN1	0.752	0.080	6	12292539	intron variant	G/C;T	snv	0.45		14