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
rs2228527	ERCC6	0.925	0.080	10	49470323	missense variant	T/C	snv	0.22	0.20	3
rs2303425	MSH2	0.790	0.120	2	47403074	5 prime UTR variant	T/C	snv		0.10	8
rs11170164	KRT5	0.827	0.120	12	52519884	missense variant	C/T	snv	5.7E-02	5.3E-02	6
rs104894049	SHH	0.925	0.120	7	155806527	missense variant	T/A	snv			3
rs12951053	TP53	0.732	0.160	17	7674089	intron variant	A/C	snv		0.10	14
rs1036980234	PTCH1	0.827	0.160	9	95447156	missense variant	G/A	snv			6
rs357564	PTCH1	0.827	0.160	9	95447312	missense variant	G/A;C;T	snv	0.39; 1.2E-05; 4.1E-06		6
rs1356844630	GLI1	0.925	0.160	12	57470802	stop gained	C/T	snv	4.0E-06		5
rs104894040	SHH	0.882	0.160	7	155806509	missense variant	A/C;G	snv			4
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs1800407	OCA2	0.807	0.200	15	27985172	missense variant	C/T	snv	4.7E-02	4.9E-02	10
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs885479	MC1R	0.732	0.280	16	89919746	missense variant	G/A	snv	0.15	8.3E-02	16
rs2228479	MC1R	0.763	0.280	16	89919532	missense variant	G/A;C	snv	7.8E-02; 4.0E-06		11
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29
rs4796793	STAT3	0.716	0.320	17	42390192	upstream gene variant	G/C	snv		0.67	16
rs179008	TLR7	0.763	0.360	X	12885540	missense variant	A/C;T	snv	0.18	0.18	14
rs2293152	STAT3	0.763	0.480	17	42329511	intron variant	G/A;C;T	snv	2.8E-05; 0.59; 1.6E-05		10
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
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
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62