DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: FKRP ×

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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		33
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs543163491	FKRP	0.827	0.160	19	46755995	missense variant	A/G;T	snv	8.2E-05; 6.8E-06		5
rs104894681	FKRP	0.776	0.200	19	46756793	missense variant	C/T	snv	9.0E-06		5
rs121908110	FKRP	0.882	0.160	19	46756837	missense variant	A/G	snv	1.2E-04	2.1E-05	3
rs104894692	FKRP	0.882	0.160	19	46756369	missense variant	T/A	snv	6.3E-06	1.4E-05	3
rs104894691	FKRP	0.925	0.160	19	46756349	missense variant	T/C	snv	6.4E-06	4.2E-05	2
rs770711331	FKRP	0.925	0.160	19	46755716	missense variant	C/T	snv	1.5E-05		2
rs754403441	FKRP	0.925	0.160	19	46756586	frameshift variant	G/-;GG	delins			2
rs28937903	FKRP	0.882	0.160	19	46756814	missense variant	C/A;T	snv	4.5E-06		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
rs104894680	FKRP	1.000	0.120	19	46756604	stop gained	C/A;G;T	snv	4.1E-06; 1.7E-04		2
rs104894682	FKRP	0.925	0.160	19	46756936	stop lost	T/A	snv	8.1E-06	1.4E-05	2
rs1568419860	FKRP	1.000	0.120	19	46756525	frameshift variant	-/GG	delins			1
rs563033008	FKRP	0.925	0.160	19	46756348	missense variant	G/A	snv	3.2E-05	3.1E-04	1
rs1060502109	FKRP	1.000	0.120	19	46756533	stop gained	C/A;G	snv	4.5E-06		1
rs1247934219	FKRP	1.000	0.120	19	46756273	missense variant	C/T	snv	1.7E-05		1
rs1555738103	FKRP	1.000	0.120	19	46755588	frameshift variant	C/-	delins			1
rs1290836394	FKRP	1.000	0.120	19	46755605	frameshift variant	-/TGCGG	delins			1
rs775681117	FKRP	1.000	0.120	19	46756129	missense variant	G/C	snv			1
rs1555738883	FKRP	1.000	0.120	19	46756407	frameshift variant	GC/-	delins			1
rs765885747	FKRP	1.000	0.120	19	46756378	stop gained	G/C;T	snv	4.4E-05; 2.5E-05		1
rs1555738675	FKRP	1.000	0.120	19	46756131	frameshift variant	GGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGC/-	delins			1
rs1191737604	FKRP	1.000	0.120	19	46756004	frameshift variant	C/-;CC	delins			1