DisGeNET - a database of gene-disease associations

List of associated variants

Sarcoma, C1261473

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs895520	NPAS2	0.689	0.320	2	100961475	intron variant	G/A	snv		0.35	23
rs934945	PER2	0.827	0.200	2	238246412	missense variant	C/T	snv	0.21	0.15	10
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			9
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv			21
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			19
rs267607845	MLH1	0.925	0.160	3	37042267	splice acceptor variant	G/A;T	snv			5
rs1801260	CLOCK ; TMEM165	0.695	0.280	4	55435202	3 prime UTR variant	A/G	snv		0.25	28
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
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
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs1057519861	EGFR ; EGFR-AS1	0.776	0.080	7	55181398	missense variant	T/A	snv			15
rs587779340	PMS2	0.882	0.200	7	6003794	splice acceptor variant	T/A;C;G	snv	4.1E-06		7
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs28933406	LRRC56 ; HRAS	0.667	0.480	11	533875	missense variant	G/C;T	snv			27
rs532480170	C11orf65 ; ATM	0.882	0.280	11	108316015	stop gained	C/A;T	snv	1.2E-05; 4.0E-06		5
rs786201675	ATM	0.925	0.320	11	108282838	frameshift variant	TTATT/-	delins			4
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48