DisGeNET - a database of gene-disease associations

List of associated variants

Experimental Organism Basal Cell Carcinoma, C3811653

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
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs965337385	PPP1R13L	1.000	0.040	19	45395856	missense variant	T/C	snv			2
rs2303425	MSH2	0.790	0.120	2	47403074	5 prime UTR variant	T/C	snv		0.10	8
rs12210050	LOC105374875	0.807	0.040	6	475489	non coding transcript exon variant	C/T	snv		0.11	8
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13
rs2228529	ERCC6	0.925	0.080	10	49459059	missense variant	T/C	snv	0.22	0.19	4
rs2228527	ERCC6	0.925	0.080	10	49470323	missense variant	T/C	snv	0.22	0.20	3
rs11170164	KRT5	0.827	0.120	12	52519884	missense variant	C/T	snv	5.7E-02	5.3E-02	6
rs57343616	NABP2 ; SLC39A5	1.000	0.040	12	56229563	3 prime UTR variant	C/T	snv		4.2E-02	2
rs79824801	PAN2 ; IL23A	1.000	0.040	12	56334353	intron variant	T/C	snv		4.5E-02	2
rs774885952	GLI1	1.000	0.040	12	57464828	missense variant	C/T	snv	4.0E-06		2
rs1356844630	GLI1	0.925	0.160	12	57470802	stop gained	C/T	snv	4.0E-06		5
rs16917546	LOC105378327 ; ZNF365	0.851	0.040	10	62637778	intron variant	T/C	snv		0.29	6
rs659857	MUS81	1.000	0.040	11	65862461	synonymous variant	T/C	snv	0.57	0.52	2
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs12951053	TP53	0.732	0.160	17	7674089	intron variant	A/C	snv		0.10	14
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29