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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			19
rs121908698	CHEK2	0.851	0.200	22	28725242	splice donor variant	C/A;T	snv	4.0E-06; 1.3E-04		7
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913282	PIK3CA	0.882	0.040	3	179221072	missense variant	A/C	snv			4
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs1223868338	ACTA2 ; FAS	0.882	0.040	10	88990884	missense variant	G/C	snv		7.0E-06	3
rs122445099	ATRX	0.827	0.400	X	77520832	stop gained	G/A	snv			6
rs1226994105	PIK3CG	0.882	0.040	7	106868379	missense variant	G/A	snv	8.0E-06		5
rs1233296947	CTNNB1	0.851	0.080	3	41225746	missense variant	G/A	snv	4.0E-06		5
rs1253660442	SLC19A1	0.851	0.160	21	45531871	missense variant	G/A;C	snv			4
rs12602273	TP53	0.851	0.080	17	7679695	intron variant	C/G	snv		0.15	4
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs12879262	MIR4309	0.882	0.040	14	102539710	non coding transcript exon variant	G/C	snv	0.12	0.11	3
rs12894467	MIR300 ; MIR1185-1	0.807	0.080	14	101041390	non coding transcript exon variant	C/T	snv	0.51	0.50	6
rs12951053	TP53	0.732	0.160	17	7674089	intron variant	A/C	snv		0.10	14
rs1295925	VMP1	0.882	0.040	17	59832902	intron variant	T/C	snv		0.60	3
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1332788424	HLA-DOA	1.000	0.040	6	33009477	synonymous variant	C/A;T	snv	4.3E-06		2
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs137853008	CHEK2	1.000	0.040	22	28734673	missense variant	C/A	snv			1
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	16
rs137853294	RB1	0.827	0.200	13	48459708	missense variant	C/T	snv	1.6E-05		6
rs1416572796	ALPL	0.851	0.120	1	21568170	missense variant	G/T	snv	4.0E-06		4