DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Basal Cell, C4721806

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
rs214803	TGM3	0.851	0.040	20	2309687	missense variant	C/A;G;T	snv	0.82; 4.0E-06		4
rs2228529	ERCC6	0.925	0.080	10	49459059	missense variant	T/C	snv	0.22	0.19	4
rs7297245	HAL	0.882	0.040	12	95980836	missense variant	C/T	snv	0.85	0.86	4
rs104894049	SHH	0.925	0.120	7	155806527	missense variant	T/A	snv			3
rs2228527	ERCC6	0.925	0.080	10	49470323	missense variant	T/C	snv	0.22	0.20	3
rs749496294	ATRN	0.925	0.040	20	3562435	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs758656848	PTCH1	0.925	0.040	9	95485797	missense variant	T/C	snv			3
rs760253622	PTCH1	0.925	0.040	9	95506428	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		3
rs121918348	SMO	0.925	0.040	7	129210997	missense variant	G/A	snv	4.0E-05	2.8E-05	2
rs137853214	CCNH ; RASA1	0.925	0.040	5	87349304	missense variant	G/T	snv			2
rs137853215	RASA1 ; CCNH	0.925	0.040	5	87349309	missense variant	A/G	snv			2
rs137853216	CCNH ; RASA1	0.925	0.040	5	87349312	missense variant	A/G	snv			2
rs17710891	SMO	0.925	0.040	7	129209348	missense variant	G/A;C	snv	2.4E-05		2
rs41303402	SMO	1.000	0.040	7	129203437	missense variant	G/A;T	snv	1.0E-04; 5.7E-06		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
rs774885952	GLI1	1.000	0.040	12	57464828	missense variant	C/T	snv	4.0E-06		2
rs893729101	CLPTM1L	1.000	0.040	5	1341708	missense variant	T/C	snv		2.1E-05	2
rs912880810	SMO	1.000	0.040	7	129203401	missense variant	C/G;T	snv			2
rs937023804	PTCH1	1.000	0.040	9	95479023	missense variant	C/T	snv		2.1E-05	2
rs965337385	PPP1R13L	1.000	0.040	19	45395856	missense variant	T/C	snv			2
rs2151280	CDKN2B-AS1	0.701	0.360	9	22034720	non coding transcript exon variant	G/A	snv		0.46	16
rs12210050	LOC105374875	0.807	0.040	6	475489	non coding transcript exon variant	C/T	snv		0.11	8
rs659857	MUS81	1.000	0.040	11	65862461	synonymous variant	T/C	snv	0.57	0.52	2
rs2303425	MSH2	0.790	0.120	2	47403074	5 prime UTR variant	T/C	snv		0.10	8