DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Limb-girdle muscular dystrophy type 2A ×

Variants associated to the Gene: CAPN3 ×

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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
rs1057524468	CAPN3	1.000	0.120	15	42394343	splice donor variant	T/A;C	snv			1
rs1064793620	CAPN3	1.000	0.120	15	42389037	frameshift variant	AT/-	del			1
rs1085307995	CAPN3	1.000	0.120	15	42392678	missense variant	G/A;C	snv			1
rs121434544	CAPN3	1.000	0.120	15	42402972	missense variant	G/A;C;T	snv	8.0E-06; 4.0E-06		1
rs121434545	CAPN3 ; LOC105370794	1.000	0.120	15	42384501	stop gained	C/A;T	snv	8.0E-06; 4.0E-06		1
rs121434546	CAPN3	1.000	0.120	15	42360062	missense variant	C/T	snv	2.0E-05	7.0E-06	1
rs121434547	CAPN3	1.000	0.120	15	42392649	missense variant	C/T	snv	2.4E-05	7.0E-06	1
rs121434548	CAPN3	0.925	0.120	15	42401755	missense variant	G/A;C	snv	6.8E-05; 4.0E-06		1
rs1274808359	CAPN3	1.000	0.120	15	42401667	missense variant	C/T	snv	1.2E-05	1.4E-05	1
rs1275289254	CAPN3	1.000	0.120	15	42401811	splice donor variant	G/A;T	snv	4.1E-06		1
rs1293496023	CAPN3	1.000	0.120	15	42399594	frameshift variant	TG/-	delins	4.0E-06		1
rs1334369407	CAPN3	1.000	0.120	15	42402967	frameshift variant	C/-	delins	4.0E-06		1
rs1345121557	CAPN3	1.000	0.120	15	42388959	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs1366387924	CAPN3	1.000	0.120	15	42402979	frameshift variant	C/-	del	4.0E-06		1
rs141656719	CAPN3	0.925	0.120	15	42401754	missense variant	C/T	snv	4.0E-06; 8.4E-05	1.5E-04	2
rs142004418	CAPN3	0.925	0.120	15	42402878	missense variant	C/G;T	snv	4.0E-06; 3.6E-05		2
rs1447774727	CAPN3	1.000	0.120	15	42410954	frameshift variant	-/T	delins		1.4E-05	1
rs1459288402	CAPN3	1.000	0.120	15	42389097	splice donor variant	G/A	snv	4.0E-06		1
rs146923842	CAPN3	1.000	0.120	15	42410660	missense variant	G/A	snv	7.9E-04	7.2E-04	1
rs147764579	CAPN3	1.000	0.120	15	42401752	missense variant	G/A	snv	5.6E-05	1.5E-04	1
rs149095128	CAPN3	1.000	0.120	15	42411299	missense variant	C/A	snv	8.0E-05	1.7E-04	1
rs1555417257	CAPN3	1.000	0.120	15	42359807	start lost	T/C	snv			1
rs1555417271	CAPN3	1.000	0.120	15	42359861	frameshift variant	C/-	delins			1
rs1555417321	CAPN3	1.000	0.120	15	42360014	frameshift variant	A/-	delins			1
rs1555420083	LOC105370794 ; CAPN3	1.000	0.120	15	42384541	frameshift variant	A/-	delins			1