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
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs179008	TLR7	0.763	0.360	X	12885540	missense variant	A/C;T	snv	0.18	0.18	14
rs912880810	SMO	1.000	0.040	7	129203401	missense variant	C/G;T	snv			2
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
rs893729101	CLPTM1L	1.000	0.040	5	1341708	missense variant	T/C	snv		2.1E-05	2
rs104894040	SHH	0.882	0.160	7	155806509	missense variant	A/C;G	snv			4
rs104894049	SHH	0.925	0.120	7	155806527	missense variant	T/A	snv			3
rs142310826		1.000	0.040	4	178481702	intergenic variant	T/A	snv		1.7E-02	3
rs3769823	CASP8	0.851	0.040	2	201258272	missense variant	A/G	snv	0.66	0.65	6
rs700635	FLACC1	0.925	0.040	2	201288502	3 prime UTR variant	C/A	snv		0.72	3
rs13014235	FLACC1	0.851	0.040	2	201350769	missense variant	C/G	snv	0.62	0.63	5
rs768043782	CDKN2B ; CDKN2B-AS1	1.000	0.040	9	22005994	missense variant	C/T	snv	8.6E-06		2
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1800407	OCA2	0.807	0.200	15	27985172	missense variant	C/T	snv	4.7E-02	4.9E-02	10
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs749496294	ATRN	0.925	0.040	20	3562435	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs2293152	STAT3	0.763	0.480	17	42329511	intron variant	G/A;C;T	snv	2.8E-05; 0.59; 1.6E-05		10
rs4796793	STAT3	0.716	0.320	17	42390192	upstream gene variant	G/C	snv		0.67	16