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
rs1642785	TP53	0.807	0.200	17	7676483	5 prime UTR variant	G/A;C;T	snv	1.2E-05; 0.67; 2.8E-05		6
rs235768	BMP2	0.807	0.160	20	6778468	missense variant	A/G;T	snv	0.67		8
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs3213245	XRCC1 ; PINLYP	0.742	0.240	19	43575535	5 prime UTR variant	G/A	snv	0.65	0.60	13
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs171140	ERCC2	0.807	0.080	19	45361744	non coding transcript exon variant	C/A	snv	0.58	0.64	6
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs998075	IGF2R	0.882	0.040	6	160047246	synonymous variant	A/G	snv	0.53	0.54	3
rs998074	IGF2R	0.882	0.040	6	160047351	intron variant	T/A;C	snv	0.53		3
rs2075559	COL1A1	0.882	0.040	17	50189930	intron variant	G/A;C;T	snv	0.52; 4.0E-06		3
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs12894467	MIR300 ; MIR1185-1	0.807	0.080	14	101041390	non coding transcript exon variant	C/T	snv	0.51	0.50	6
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs17206779	ADAMTS6	0.882	0.040	5	65151950	splice region variant	C/G;T	snv	0.48		3
rs2070699	EDN1	0.752	0.080	6	12292539	intron variant	G/C;T	snv	0.45		14
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs3745406	PRKCG	0.851	0.080	19	53891711	missense variant	T/A;C	snv	4.0E-06; 0.41		6
rs11866002	CNOT1	0.851	0.120	16	58553833	synonymous variant	C/T	snv	0.35	0.39	4
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs2372536	ATIC	0.827	0.160	2	215325297	missense variant	C/G	snv	0.33	0.25	5
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
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