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
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
rs1805005	MC1R	0.827	0.080	16	89919436	missense variant	G/T	snv	8.6E-02	8.0E-02	8
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs2303425	MSH2	0.790	0.120	2	47403074	5 prime UTR variant	T/C	snv		0.10	8
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
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
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
rs1800407	OCA2	0.807	0.200	15	27985172	missense variant	C/T	snv	4.7E-02	4.9E-02	10
rs79824801	PAN2 ; IL23A	1.000	0.040	12	56334353	intron variant	T/C	snv		4.5E-02	2
rs965337385	PPP1R13L	1.000	0.040	19	45395856	missense variant	T/C	snv			2
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
rs758656848	PTCH1	0.925	0.040	9	95485797	missense variant	T/C	snv			3
rs760253622	PTCH1	0.925	0.040	9	95506428	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		3
rs746339472	PTCH1	1.000	0.040	9	95506413	missense variant	C/T	snv	8.0E-06	2.1E-05	2
rs937023804	PTCH1	1.000	0.040	9	95479023	missense variant	C/T	snv		2.1E-05	2
rs2805831	PTCSC2	1.000	0.040	9	97704354	intron variant	G/A	snv		0.18	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
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs41303402	SMO	1.000	0.040	7	129203437	missense variant	G/A;T	snv	1.0E-04; 5.7E-06		2
rs912880810	SMO	1.000	0.040	7	129203401	missense variant	C/G;T	snv			2