DisGeNET - a database of gene-disease associations

List of shared variants

Osteosarcoma of bone, C0585442

Disease: Osteosarcoma

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 GENOME	Num. diseases
rs1005464	BMP2	0.882	0.040	20	6775501	intron variant	G/A	snv	0.19	5
rs10208273		0.882	0.040	2	6383862	intergenic variant	A/G	snv	0.30	3
rs1052667	ARHGAP35	0.882	0.040	19	47004177	3 prime UTR variant	C/G;T	snv		6
rs1056629	MPHOSPH6	0.827	0.120	16	82148499	3 prime UTR variant	T/C	snv	0.14	6
rs1057519736	IDH2	0.752	0.160	15	90088605	missense variant	C/G	snv		13
rs1060501205	TP53	0.827	0.120	17	7673749	missense variant	TG/GT	mnv		5
rs1061970	COL1A1	0.882	0.040	17	50184491	3 prime UTR variant	A/G	snv	0.13	3
rs11177386	MDM2	0.882	0.040	12	68820362	missense variant	G/A	snv		3
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv		19
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
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
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
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins	8.8E-02	31
rs1690916	MDM2	0.882	0.040	12	68841626	3 prime UTR variant	G/A	snv	0.35	4
rs16948627	ITGA3	0.882	0.040	17	50063432	intron variant	C/A;T	snv		4
rs17111750		0.882	0.040	14	20442249	downstream gene variant	C/T	snv	0.30	3
rs1760944	OSGEP ; APEX1	0.672	0.480	14	20454990	non coding transcript exon variant	T/C;G	snv		26
rs1800541	EDN1	0.851	0.120	6	12288986	upstream gene variant	T/G	snv	0.24	5
rs1800544	ADRA2A	0.790	0.160	10	111076745	upstream gene variant	G/C	snv	0.59	12
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv	0.69	108