DisGeNET - a database of gene-disease associations

List of associated variants

MUSCULAR DYSTROPHY, CONGENITAL, 1C, C1847759

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
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
rs121908110	FKRP	0.882	0.160	19	46756837	missense variant	A/G	snv	1.2E-04	2.1E-05	4
rs28937903	FKRP	0.882	0.160	19	46756814	missense variant	C/A;T	snv	4.5E-06		3
rs104894679	FKRP	1.000	0.120	19	46756376	missense variant	A/G	snv	6.3E-06		2
rs752582904	FKRP	0.925	0.120	19	46756397	missense variant	C/G	snv	6.0E-06	7.0E-06	2
rs1057520772	FKRP	1.000	0.120	19	46756844	missense variant	A/C	snv			1
rs143793528	FKRP	1.000	0.120	19	46755791	missense variant	C/G	snv	1.0E-02	9.0E-03	1
rs1555739117	FKRP	1.000	0.120	19	46756651	missense variant	G/A	snv			1
rs28937902	FKRP	1.000	0.120	19	46756113	missense variant	C/A	snv			1
rs28937904	FKRP	1.000	0.120	19	46756663	missense variant	G/A;T	snv	4.0E-06		1