DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Basal Cell, C4721806

Source: ALL

Results per page

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
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			22
rs104894040	SHH	0.882	0.160	7	155806509	missense variant	A/C;G	snv			4
rs121918347	SMO	0.851	0.080	7	129210500	missense variant	G/T	snv			4
rs157935	LINC00513 ; LINC-PINT	0.851	0.040	7	130900794	intron variant	T/G	snv		0.28	4
rs104894049	SHH	0.925	0.120	7	155806527	missense variant	T/A	snv			3
rs121918348	SMO	0.925	0.040	7	129210997	missense variant	G/A	snv	4.0E-05	2.8E-05	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
rs912880810	SMO	1.000	0.040	7	129203401	missense variant	C/G;T	snv			2
rs1805794	NBN	0.605	0.600	8	89978251	missense variant	C/G	snv	0.35	0.31	41
rs7006527	RGS22	0.851	0.040	8	100012277	intron variant	A/C;T	snv			4
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs2151280	CDKN2B-AS1	0.701	0.360	9	22034720	non coding transcript exon variant	G/A	snv		0.46	16
rs1036980234	PTCH1	0.827	0.160	9	95447156	missense variant	G/A	snv			6
rs357564	PTCH1	0.827	0.160	9	95447312	missense variant	G/A;C;T	snv	0.39; 1.2E-05; 4.1E-06		6
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
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