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
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
rs700635	FLACC1	0.925	0.040	2	201288502	3 prime UTR variant	C/A	snv		0.72	3
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs4796793	STAT3	0.716	0.320	17	42390192	upstream gene variant	G/C	snv		0.67	16
rs3769823	CASP8	0.851	0.040	2	201258272	missense variant	A/G	snv	0.66	0.65	6
rs13014235	FLACC1	0.851	0.040	2	201350769	missense variant	C/G	snv	0.62	0.63	5
rs659857	MUS81	1.000	0.040	11	65862461	synonymous variant	T/C	snv	0.57	0.52	2
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs16917546	LOC105378327 ; ZNF365	0.851	0.040	10	62637778	intron variant	T/C	snv		0.29	6
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
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
rs179008	TLR7	0.763	0.360	X	12885540	missense variant	A/C;T	snv	0.18	0.18	14
rs2805831	PTCSC2	1.000	0.040	9	97704354	intron variant	G/A	snv		0.18	2
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs12210050	LOC105374875	0.807	0.040	6	475489	non coding transcript exon variant	C/T	snv		0.11	8
rs2303425	MSH2	0.790	0.120	2	47403074	5 prime UTR variant	T/C	snv		0.10	8
rs12951053	TP53	0.732	0.160	17	7674089	intron variant	A/C	snv		0.10	14
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs885479	MC1R	0.732	0.280	16	89919746	missense variant	G/A	snv	0.15	8.3E-02	16
rs1805005	MC1R	0.827	0.080	16	89919436	missense variant	G/T	snv	8.6E-02	8.0E-02	8