DisGeNET - a database of gene-disease associations

List of associated variants

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I, C1846672

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
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs104894681	FKRP	0.776	0.200	19	46756793	missense variant	C/T	snv	9.0E-06		10
rs543163491	FKRP	0.827	0.160	19	46755995	missense variant	A/G;T	snv	8.2E-05; 6.8E-06		6
rs104894692	FKRP	0.882	0.160	19	46756369	missense variant	T/A	snv	6.3E-06	1.4E-05	3
rs28937903	FKRP	0.882	0.160	19	46756814	missense variant	C/A;T	snv	4.5E-06		3
rs104894682	FKRP	0.925	0.160	19	46756936	stop lost	T/A	snv	8.1E-06	1.4E-05	2
rs104894691	FKRP	0.925	0.160	19	46756349	missense variant	T/C	snv	6.4E-06	4.2E-05	2
rs563033008	FKRP	0.925	0.160	19	46756348	missense variant	G/A	snv	3.2E-05	3.1E-04	2
rs752582904	FKRP	0.925	0.120	19	46756397	missense variant	C/G	snv	6.0E-06	7.0E-06	2
rs754403441	FKRP	0.925	0.160	19	46756586	frameshift variant	G/-;GG	delins			2
rs770711331	FKRP	0.925	0.160	19	46755716	missense variant	C/T	snv	1.5E-05		2
rs886042506	FKRP	0.925	0.160	19	46755610	frameshift variant	-/GGAG	delins			2
rs886044183	FKRP	0.925	0.160	19	46756420	stop gained	G/A;C;T	snv			2
rs104894683	FKRP	1.000	0.120	19	46755685	missense variant	G/A	snv	1.0E-03	4.3E-03	1
rs104894689	FKRP	1.000	0.120	19	46756214	stop gained	G/A	snv			1
rs104894690	FKRP	1.000	0.120	19	46755850	missense variant	C/T	snv			1
rs1191737604	FKRP	1.000	0.120	19	46756004	frameshift variant	C/-;CC	delins			1
rs1301397800	FKRP	1.000	0.120	19	46756883	missense variant	T/C	snv	4.1E-06	7.0E-06	1
rs143031195	FKRP	1.000	0.120	19	46756523	missense variant	C/T	snv	1.4E-04	1.0E-04	1
rs1450841129	FKRP	1.000	0.120	19	46756466	missense variant	G/A;C;T	snv	5.2E-06		1
rs148206382	FKRP	1.000	0.120	19	46755877	missense variant	C/A	snv	4.5E-03	3.6E-03	1
rs1483781400	FKRP	1.000	0.120	19	46756381	stop gained	G/A;T	snv			1
rs1555738149	FKRP	1.000	0.120	19	46755617	frameshift variant	-/AGGCATTTGACAACGCG	delins			1
rs1555738201	FKRP	1.000	0.120	19	46755664	stop gained	C/T	snv			1