DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Basal Cell, C4721806

Source: CLINVAR ×

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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
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
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			15
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			13
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	11
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs80359601	BRCA2	0.807	0.360	13	32340890	frameshift variant	-/A;NNNNNNNN	ins	4.1E-06		8
rs869025212	BAP1	0.827	0.200	3	52403428	frameshift variant	G/-	delins			6
rs775248597	ATM	0.851	0.120	11	108229185	stop gained	C/G;T	snv	8.1E-06		5
rs778031266	ATM ; C11orf65	0.882	0.360	11	108316114	splice donor variant	G/A	snv	4.0E-06		4
rs786203714	PALB2	0.925	0.200	16	23635095	stop gained	A/T	snv			4
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		3
rs104894040	SHH	0.882	0.160	7	155806509	missense variant	A/C;G	snv			2
rs17710891	SMO	0.925	0.040	7	129209348	missense variant	G/A;C	snv	2.4E-05		2
rs137853214	CCNH ; RASA1	0.925	0.040	5	87349304	missense variant	G/T	snv			1
rs137853216	CCNH ; RASA1	0.925	0.040	5	87349312	missense variant	A/G	snv			1
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs137853215	RASA1 ; CCNH	0.925	0.040	5	87349309	missense variant	A/G	snv			1
rs104894049	SHH	0.925	0.120	7	155806527	missense variant	T/A	snv			1
rs121918347	SMO	0.851	0.080	7	129210500	missense variant	G/T	snv			1
rs121918348	SMO	0.925	0.040	7	129210997	missense variant	G/A	snv	4.0E-05	2.8E-05	1
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	1