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
rs1060501205	TP53	0.827	0.120	17	7673749	missense variant	TG/GT	mnv			5
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48
rs11556218	IL16	0.653	0.600	15	81305928	missense variant	T/G	snv	9.6E-02	0.12	27
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs1800541	EDN1	0.851	0.120	6	12288986	upstream gene variant	T/G	snv		0.24	5
rs756673959	MDM2	0.882	0.040	12	68828867	stop lost	T/G	snv			3
rs1760944	OSGEP ; APEX1	0.672	0.480	14	20454990	non coding transcript exon variant	T/C;G	snv			26
rs747342068	TP53	0.695	0.440	17	7675218	missense variant	T/C;G	snv	4.0E-06		21
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			18
rs7025417	LOC107987046 ; IL33	0.752	0.280	9	6240084	intron variant	T/C;G	snv			11
rs758300152	FSCB	0.882	0.040	14	44504889	missense variant	T/C;G	snv	1.6E-05; 4.0E-06		3
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs4778889	IL16	0.683	0.480	15	81296654	intron variant	T/C	snv		0.24	24
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs1056629	MPHOSPH6	0.827	0.120	16	82148499	3 prime UTR variant	T/C	snv		0.14	6
rs3178250	BMP2	0.827	0.080	20	6779554	3 prime UTR variant	T/C	snv		0.21	5
rs4150441	ERCC3	0.882	0.040	2	127283339	intron variant	T/C	snv		0.37	5
rs1215600806	ALPL	0.851	0.120	1	21564100	missense variant	T/C	snv	1.2E-05		4
rs143358506	ALPL	0.851	0.120	1	21560674	missense variant	T/C	snv	8.0E-06	7.0E-06	4
rs2285524	ITGA3	0.882	0.040	17	50073989	synonymous variant	T/C	snv	0.21	0.24	4
rs7646409	PIK3CA	0.882	0.040	3	179182405	intron variant	T/C	snv		0.26	4