DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Osteosarcoma, C1332986

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
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
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
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
rs1800541	EDN1	0.851	0.120	6	12288986	upstream gene variant	T/G	snv		0.24	5
rs56307747	ELN ; ELN-AS1	0.776	0.160	7	74059952	missense variant	G/A;C	snv	4.0E-06		8
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs2298881	ERCC1	0.653	0.400	19	45423658	intron variant	C/A;T	snv			25
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs756340448	ERCC2	0.790	0.240	19	45369135	synonymous variant	G/A	snv	4.0E-06	7.0E-06	8
rs171140	ERCC2	0.807	0.080	19	45361744	non coding transcript exon variant	C/A	snv	0.58	0.64	6
rs4150441	ERCC3	0.882	0.040	2	127283339	intron variant	T/C	snv		0.37	5
rs4150506	ERCC3	0.851	0.120	2	127262970	intron variant	G/A	snv		0.18	4
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41