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
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
rs1555420462	CAPN3 ; LOC105370794	1.000	0.120	15	42387757	stop gained	G/A	snv			1
rs1555420468	CAPN3 ; LOC105370794	1.000	0.120	15	42387763	missense variant	A/G	snv			1
rs1555420475	CAPN3 ; LOC105370794	1.000	0.120	15	42387772	stop gained	G/A	snv			1
rs1555420634	CAPN3	1.000	0.120	15	42388996	missense variant	G/A	snv			1
rs1555420765	CAPN3	1.000	0.120	15	42389999	missense variant	T/C	snv			1
rs1555421263	CAPN3	1.000	0.120	15	42394255	splice acceptor variant	G/A	snv			1
rs1555421271	CAPN3	1.000	0.120	15	42394287	missense variant	T/G	snv			1
rs1555421280	CAPN3	1.000	0.120	15	42394305	stop gained	G/A	snv			1
rs1555421293	CAPN3	1.000	0.120	15	42394342	splice donor variant	G/A	snv			1
rs1555421523	CAPN3	1.000	0.120	15	42396802	stop gained	G/A	snv			1
rs1555421847	CAPN3	1.000	0.120	15	42399532	stop gained	G/T	snv			1
rs1555422839	CAPN3	1.000	0.120	15	42408268	stop gained	G/T	snv			1
rs1555422856	CAPN3	1.000	0.120	15	42408326	splice donor variant	T/C	snv			1
rs1555423015	CAPN3	1.000	0.120	15	42409801	stop gained	T/A	snv			1
rs1555423146	CAPN3	1.000	0.120	15	42410498	splice donor variant	T/C	snv			1
rs1555423222	CAPN3	1.000	0.120	15	42411001	splice donor variant	G/T	snv			1
rs200379491	CAPN3	1.000	0.120	15	42410432	missense variant	A/G	snv	1.5E-04	4.9E-05	1
rs200646556	CAPN3	1.000	0.120	15	42399548	missense variant	C/T	snv	5.2E-05	5.6E-05	1
rs201736037	CAPN3	1.000	0.120	15	42401721	missense variant	A/G	snv	5.6E-05	6.3E-05	1
rs267606703	CAPN3	1.000	0.120	15	42394306	missense variant	G/C	snv			1
rs369784333	CAPN3	1.000	0.120	15	42388935	missense variant	G/A	snv	8.7E-05	4.2E-05	1
rs374665929	CAPN3	1.000	0.120	15	42399483	intron variant	A/C;G	snv	1.2E-05	1.4E-05	1
rs398123143	CAPN3	1.000	0.120	15	42402879	missense variant	G/A	snv	1.2E-05	1.4E-05	1