DisGeNET - a database of gene-disease associations

List of associated variants

Secondary malignant neoplasm of bone, C0153690

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
rs1805034	TNFRSF11A	0.742	0.360	18	62360008	missense variant	C/T	snv	0.54	0.56	12
rs35211496	TNFRSF11A	0.851	0.200	18	62354528	missense variant	C/T	snv	0.12	0.12	5
rs1054016	TNFSF11	0.882	0.160	13	42607866	3 prime UTR variant	G/T	snv		0.35	4
rs34945627	TNFRSF11A	0.882	0.160	18	62369265	missense variant	C/T	snv	6.7E-04	2.3E-03	3
rs754854286	ZEB1	1.000	0.120	10	31520432	missense variant	G/C	snv			3