DisGeNET - a database of gene-disease associations

List of associated variants

Distal lower limb muscle weakness, C1836450

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
rs267607261	MPV17	0.807	0.280	2	27312753	stop gained	C/T	snv	8.0E-06		28
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs1057518083	DYNC1H1	0.851	0.120	14	101986552	missense variant	C/T	snv			21
rs1202430946	IGHMBP2	0.827	0.080	11	68930251	non coding transcript exon variant	C/A;T	snv		1.4E-05	17
rs121908457	LOC101928005 ; MYOT	0.882	0.120	5	137870815	missense variant	C/T	snv			13
rs28928910	NEFL	0.827	0.200	8	24956452	missense variant	G/A;T	snv			11
rs1057518780	GJB1	0.882	0.200	X	71224209	missense variant	T/G	snv			8
rs143003434	SPAST	1.000	0.080	2	32098840	missense variant	G/A	snv	3.2E-05	3.5E-05	7
rs1555365597	ATL1	0.925	0.040	14	50623194	missense variant	C/A	snv			5
rs1553551006	DYSF	1.000		2	71564172	frameshift variant	T/-	del			4
rs1057518935	DYNC1H1			14	101980418	missense variant	T/G	snv			1