DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Gene: CACNA1C ×

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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 GENOME	Num. diseases
rs1006737	CACNA1C	0.695	0.120	12	2236129	intron variant	G/A	snv	0.36	6
rs2239051	CACNA1C			12	2343026	intron variant	A/G	snv	2.0E-03	4
rs10774037	CACNA1C	0.882	0.040	12	2311360	intron variant	G/A	snv	0.77	2
rs4765905	CACNA1C	0.827	0.040	12	2240418	intron variant	G/A;C	snv		2
rs4765913	CACNA1C	1.000	0.040	12	2310730	intron variant	A/T	snv	0.82	1
rs4765961	CACNA1C	1.000	0.040	12	2559306	intron variant	T/C;G	snv		1
rs7972947	CACNA1C	1.000	0.040	12	2061267	intron variant	C/A;T	snv		1
rs12322010	CACNA1C			12	2542721	intron variant	A/G	snv	4.3E-02	1
rs769087	CACNA1C	1.000	0.040	12	2235478	intron variant	G/A	snv	0.36	1
rs10774035	CACNA1C	0.925	0.040	12	2259508	intron variant	C/A;T	snv		1
rs4765914	CACNA1C	0.925	0.040	12	2311211	intron variant	T/C;G	snv		1
rs12315711	CACNA1C	1.000	0.040	12	2237664	intron variant	T/A	snv	0.36	1
rs12424245	CACNA1C	1.000	0.040	12	2213347	intron variant	A/G	snv	0.26	1
rs4298967	CACNA1C	1.000	0.040	12	2299028	intron variant	A/G	snv	0.74	1
rs1860002	CACNA1C	1.000	0.040	12	2304637	intron variant	C/G;T	snv		1
rs2159100	CACNA1C	0.925	0.040	12	2237227	intron variant	C/A;G;T	snv		1
rs11062170	CACNA1C	1.000	0.040	12	2239678	intron variant	G/C	snv	0.26	1
rs2370413	CACNA1C	1.000	0.040	12	2245704	intron variant	T/C	snv	0.59	1
rs758170	CACNA1C	1.000	0.040	12	2252294	intron variant	C/G;T	snv	0.34	1
rs7297582	CACNA1C	0.925	0.040	12	2246640	intron variant	C/T	snv	0.29	1
rs2007044	CACNA1C	0.882	0.040	12	2235794	intron variant	A/G	snv	0.50	1
rs16929460	CACNA1C			12	2488593	intron variant	G/A	snv	3.9E-02	1
rs7312107	CACNA1C			12	2414204	intron variant	A/G;T	snv		1
rs7312105	CACNA1C			12	2414189	intron variant	A/G	snv	0.34	1
rs10491964	CACNA1C			12	2391265	intron variant	G/A;C	snv		1