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
rs760253622	PTCH1	0.925	0.040	9	95506428	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		3
rs2805831	PTCSC2	1.000	0.040	9	97704354	intron variant	G/A	snv		0.18	2
rs746339472	PTCH1	1.000	0.040	9	95506413	missense variant	C/T	snv	8.0E-06	2.1E-05	2
rs768043782	CDKN2B ; CDKN2B-AS1	1.000	0.040	9	22005994	missense variant	C/T	snv	8.6E-06		2
rs937023804	PTCH1	1.000	0.040	9	95479023	missense variant	C/T	snv		2.1E-05	2
rs16917546	LOC105378327 ; ZNF365	0.851	0.040	10	62637778	intron variant	T/C	snv		0.29	6
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
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29
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
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13
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
rs774885952	GLI1	1.000	0.040	12	57464828	missense variant	C/T	snv	4.0E-06		2
rs79824801	PAN2 ; IL23A	1.000	0.040	12	56334353	intron variant	T/C	snv		4.5E-02	2
rs7335046		0.807	0.040	13	99389484	downstream gene variant	G/C	snv		0.80	7
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs1800407	OCA2	0.807	0.200	15	27985172	missense variant	C/T	snv	4.7E-02	4.9E-02	10
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs885479	MC1R	0.732	0.280	16	89919746	missense variant	G/A	snv	0.15	8.3E-02	16
rs2228479	MC1R	0.763	0.280	16	89919532	missense variant	G/A;C	snv	7.8E-02; 4.0E-06		11
rs1805005	MC1R	0.827	0.080	16	89919436	missense variant	G/T	snv	8.6E-02	8.0E-02	8