DisGeNET - a database of gene-disease associations

List of associated variants

Experimental Organism Basal Cell Carcinoma, C3811653

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
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs79824801	PAN2 ; IL23A	1.000	0.040	12	56334353	intron variant	T/C	snv		4.5E-02	2
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
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
rs746339472	PTCH1	1.000	0.040	9	95506413	missense variant	C/T	snv	8.0E-06	2.1E-05	2
rs7335046		0.807	0.040	13	99389484	downstream gene variant	G/C	snv		0.80	7
rs7297245	HAL	0.882	0.040	12	95980836	missense variant	C/T	snv	0.85	0.86	4
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs700635	FLACC1	0.925	0.040	2	201288502	3 prime UTR variant	C/A	snv		0.72	3
rs659857	MUS81	1.000	0.040	11	65862461	synonymous variant	T/C	snv	0.57	0.52	2
rs57343616	NABP2 ; SLC39A5	1.000	0.040	12	56229563	3 prime UTR variant	C/T	snv		4.2E-02	2
rs4796793	STAT3	0.716	0.320	17	42390192	upstream gene variant	G/C	snv		0.67	16
rs41303402	SMO	1.000	0.040	7	129203437	missense variant	G/A;T	snv	1.0E-04; 5.7E-06		2
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306