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
rs965337385	PPP1R13L	1.000	0.040	19	45395856	missense variant	T/C	snv			2
rs937023804	PTCH1	1.000	0.040	9	95479023	missense variant	C/T	snv		2.1E-05	2
rs912880810	SMO	1.000	0.040	7	129203401	missense variant	C/G;T	snv			2
rs893729101	CLPTM1L	1.000	0.040	5	1341708	missense variant	T/C	snv		2.1E-05	2
rs885479	MC1R	0.732	0.280	16	89919746	missense variant	G/A	snv	0.15	8.3E-02	16
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			22
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs869025212	BAP1	0.827	0.200	3	52403428	frameshift variant	G/-	delins			6
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs80359601	BRCA2	0.807	0.360	13	32340890	frameshift variant	-/A;NNNNNNNN	ins	4.1E-06		8
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs801114		0.827	0.120	1	228862088	downstream gene variant	T/G	snv		0.48	5
rs79824801	PAN2 ; IL23A	1.000	0.040	12	56334353	intron variant	T/C	snv		4.5E-02	2
rs786203714	PALB2	0.925	0.200	16	23635095	stop gained	A/T	snv			4
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs778031266	ATM ; C11orf65	0.882	0.360	11	108316114	splice donor variant	G/A	snv	4.0E-06		4
rs775248597	ATM	0.851	0.120	11	108229185	stop gained	C/G;T	snv	8.1E-06		5
rs774885952	GLI1	1.000	0.040	12	57464828	missense variant	C/T	snv	4.0E-06		2
rs768043782	CDKN2B ; CDKN2B-AS1	1.000	0.040	9	22005994	missense variant	C/T	snv	8.6E-06		2
rs760253622	PTCH1	0.925	0.040	9	95506428	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		3
rs758656848	PTCH1	0.925	0.040	9	95485797	missense variant	T/C	snv			3
rs7538876	PADI6	0.807	0.120	1	17395867	intron variant	G/A	snv		0.37	6
rs749496294	ATRN	0.925	0.040	20	3562435	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13