DisGeNET - a database of gene-disease associations

List of associated variants

Distal muscle weakness, C0427065

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
rs119103263	MFN2	0.827	0.240	1	11992659	missense variant	C/T	snv			19
rs121912854	COL7A1	0.851	0.200	3	48592915	stop gained	G/A	snv	1.2E-05	7.0E-06	16
rs121912855	COL7A1	0.851	0.200	3	48575218	missense variant	G/A	snv	2.0E-05	7.0E-06	16
rs28928910	NEFL	0.827	0.200	8	24956452	missense variant	G/A;T	snv			11
rs140614802	LOC107984670 ; ADSS1	0.851	0.040	14	104741231	missense variant	G/A	snv	3.4E-05	2.8E-05	10
rs80338933	SH3TC2	0.807	0.080	5	149026872	stop gained	G/A	snv	7.5E-04; 4.0E-06	6.6E-04	9
rs1057518780	GJB1	0.882	0.200	X	71224209	missense variant	T/G	snv			8
rs886041287	TTN ; TTN-AS1	0.882	0.160	2	178535594	frameshift variant	-/GT	delins			8
rs121913589	MPZ	0.827	0.200	1	161306863	missense variant	C/A;G;T	snv			7
rs375014127	ANO5	1.000	0.120	11	22262162	missense variant	G/A;T	snv	4.0E-06; 6.8E-05		5
rs773159585	MFN2	0.882	0.080	1	11998877	missense variant	C/T	snv	8.0E-06		4
rs551423795	MUSK	0.925	0.080	9	110687218	missense variant	A/G	snv	2.4E-05	1.4E-05	4
rs1057518895	RAB33A ; AIFM1	1.000	0.120	X	130137134	start lost	A/G	snv			4
rs80338937	SH3TC2	0.925	0.080	5	149006955	stop gained	G/A	snv			4
rs756877019	MUSK	1.000		9	110800760	missense variant	G/C	snv	4.0E-06		3
rs886044910	MHRT ; MYH7			14	23415491	inframe deletion	TGA/-	delins			1