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
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1805005	MC1R	0.827	0.080	16	89919436	missense variant	G/T	snv	8.6E-02	8.0E-02	8
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs2228479	MC1R	0.763	0.280	16	89919532	missense variant	G/A;C	snv	7.8E-02; 4.0E-06		11
rs2228527	ERCC6	0.925	0.080	10	49470323	missense variant	T/C	snv	0.22	0.20	3
rs2228529	ERCC6	0.925	0.080	10	49459059	missense variant	T/C	snv	0.22	0.19	4
rs2293152	STAT3	0.763	0.480	17	42329511	intron variant	G/A;C;T	snv	2.8E-05; 0.59; 1.6E-05		10
rs2303425	MSH2	0.790	0.120	2	47403074	5 prime UTR variant	T/C	snv		0.10	8
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2805831	PTCSC2	1.000	0.040	9	97704354	intron variant	G/A	snv		0.18	2
rs357564	PTCH1	0.827	0.160	9	95447312	missense variant	G/A;C;T	snv	0.39; 1.2E-05; 4.1E-06		6
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs3769823	CASP8	0.851	0.040	2	201258272	missense variant	A/G	snv	0.66	0.65	6
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs41303402	SMO	1.000	0.040	7	129203437	missense variant	G/A;T	snv	1.0E-04; 5.7E-06		2
rs4796793	STAT3	0.716	0.320	17	42390192	upstream gene variant	G/C	snv		0.67	16
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
rs700635	FLACC1	0.925	0.040	2	201288502	3 prime UTR variant	C/A	snv		0.72	3
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs7297245	HAL	0.882	0.040	12	95980836	missense variant	C/T	snv	0.85	0.86	4
rs7335046		0.807	0.040	13	99389484	downstream gene variant	G/C	snv		0.80	7
rs746339472	PTCH1	1.000	0.040	9	95506413	missense variant	C/T	snv	8.0E-06	2.1E-05	2
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13