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
rs12210050	LOC105374875	0.807	0.040	6	475489	non coding transcript exon variant	C/T	snv		0.11	8
rs7335046		0.807	0.040	13	99389484	downstream gene variant	G/C	snv		0.80	7
rs16917546	LOC105378327 ; ZNF365	0.851	0.040	10	62637778	intron variant	T/C	snv		0.29	6
rs3769823	CASP8	0.851	0.040	2	201258272	missense variant	A/G	snv	0.66	0.65	6
rs13014235	FLACC1	0.851	0.040	2	201350769	missense variant	C/G	snv	0.62	0.63	5
rs157935	LINC00513 ; LINC-PINT	0.851	0.040	7	130900794	intron variant	T/G	snv		0.28	4
rs214782	TGM3 ; LOC105372503	0.851	0.040	20	2301324	intron variant	G/A	snv		0.73	4
rs214803	TGM3	0.851	0.040	20	2309687	missense variant	C/A;G;T	snv	0.82; 4.0E-06		4
rs59586681		0.851	0.040	20	2239664	intron variant	A/G;T	snv		0.34	4
rs7006527	RGS22	0.851	0.040	8	100012277	intron variant	A/C;T	snv			4
rs7297245	HAL	0.882	0.040	12	95980836	missense variant	C/T	snv	0.85	0.86	4
rs142310826		1.000	0.040	4	178481702	intergenic variant	T/A	snv		1.7E-02	3
rs700635	FLACC1	0.925	0.040	2	201288502	3 prime UTR variant	C/A	snv		0.72	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
rs2805831	PTCSC2	1.000	0.040	9	97704354	intron variant	G/A	snv		0.18	2
rs41303402	SMO	1.000	0.040	7	129203437	missense variant	G/A;T	snv	1.0E-04; 5.7E-06		2
rs57343616	NABP2 ; SLC39A5	1.000	0.040	12	56229563	3 prime UTR variant	C/T	snv		4.2E-02	2
rs659857	MUS81	1.000	0.040	11	65862461	synonymous variant	T/C	snv	0.57	0.52	2