DisGeNET - a database of gene-disease associations

List of shared variants

Muscle Weakness, C0151786

Disease: Myopathy

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
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs121918075	TTR	0.752	0.280	18	31598632	missense variant	A/G	snv			15
rs387906789	VCP	0.742	0.200	9	35065352	missense variant	G/A;C	snv	4.0E-06		14
rs59962885	DES	0.807	0.200	2	219420939	missense variant	G/A;C;T	snv	6.8E-05		11
rs61672878	LMNA	0.776	0.200	1	156136094	missense variant	G/A;T	snv			11
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			10
rs121434589	MYH2 ; MYHAS	0.851	0.200	17	10535137	missense variant	C/T	snv			8
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs57965306	DES	0.925	0.160	2	219421365	missense variant	G/A;C	snv	2.8E-05		6
rs1373863123	ACTB	1.000	0.080	7	5529540	missense variant	G/A	snv			4
rs760361706	PPARA			22	46235326	missense variant	G/C	snv	4.0E-06		4
rs1555420508	LOC105370794 ; CAPN3			15	42387891	splice region variant	G/A	snv			3
rs757725417	IMMT			2	86144399	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		3