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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs12951053	TP53	0.732	0.160	17	7674089	intron variant	A/C	snv		0.10	14
rs104894040	SHH	0.882	0.160	7	155806509	missense variant	A/C;G	snv			4
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs179008	TLR7	0.763	0.360	X	12885540	missense variant	A/C;T	snv	0.18	0.18	14
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs3769823	CASP8	0.851	0.040	2	201258272	missense variant	A/G	snv	0.66	0.65	6
rs700635	FLACC1	0.925	0.040	2	201288502	3 prime UTR variant	C/A	snv		0.72	3
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs13014235	FLACC1	0.851	0.040	2	201350769	missense variant	C/G	snv	0.62	0.63	5
rs760253622	PTCH1	0.925	0.040	9	95506428	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		3
rs912880810	SMO	1.000	0.040	7	129203401	missense variant	C/G;T	snv			2
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs1800407	OCA2	0.807	0.200	15	27985172	missense variant	C/T	snv	4.7E-02	4.9E-02	10
rs12210050	LOC105374875	0.807	0.040	6	475489	non coding transcript exon variant	C/T	snv		0.11	8
rs11170164	KRT5	0.827	0.120	12	52519884	missense variant	C/T	snv	5.7E-02	5.3E-02	6
rs1356844630	GLI1	0.925	0.160	12	57470802	stop gained	C/T	snv	4.0E-06		5
rs7297245	HAL	0.882	0.040	12	95980836	missense variant	C/T	snv	0.85	0.86	4
rs57343616	NABP2 ; SLC39A5	1.000	0.040	12	56229563	3 prime UTR variant	C/T	snv		4.2E-02	2
rs746339472	PTCH1	1.000	0.040	9	95506413	missense variant	C/T	snv	8.0E-06	2.1E-05	2