DisGeNET - a database of gene-disease associations

List of associated variants

Muscle Weakness, C0151786

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
rs781934508	SURF1	1.000	0.080	9	133352441	splice region variant	C/A;T	snv	2.4E-05		4
rs750174047	DNAH8	1.000	0.080	6	38722964	missense variant	A/T	snv	8.2E-06		3
rs772816537	TPM3	1.000	0.080	1	154173179	missense variant	G/A	snv	8.0E-06		3
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs914586984	LOC105371858 ; SCN4A	1.000	0.120	17	63959275	missense variant	G/C;T	snv			9
rs137853305	TPM2	0.851	0.120	9	35685529	missense variant	G/A	snv			7
rs118192170	RYR1	0.882	0.120	19	38584989	missense variant	T/A;C	snv			6
rs1555421871	CAPN3	0.882	0.120	15	42399617	frameshift variant	G/-	delins			6
rs138977195	SLC12A3	1.000	0.120	16	56887967	missense variant	G/A	snv	3.7E-04	4.1E-04	5
rs746438011	SYNE1	0.882	0.120	6	152430672	missense variant	A/G;T	snv	1.2E-05		4
rs117184249	SYNE1	1.000	0.120	6	152401278	missense variant	C/T	snv	9.3E-04	4.0E-04	3
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs1114167445	SPTBN4	0.851	0.160	19	40504064	stop gained	C/T	snv	8.0E-06		15
rs121912443	SOD1	0.732	0.160	21	31663857	missense variant	A/G	snv			15
rs121908552	SCN4A ; LOC105371858	0.763	0.160	17	63964587	missense variant	C/A;G;T	snv	4.0E-06		14
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs80338957	SCN4A	0.776	0.160	17	63957427	missense variant	G/A	snv			11
rs28937581	DYSF	0.827	0.160	2	71570300	missense variant	G/T	snv	1.2E-05		9
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs761051758	HSPB1	0.827	0.160	7	76302805	synonymous variant	G/A	snv	8.5E-06		7
rs57965306	DES	0.925	0.160	2	219421365	missense variant	G/A;C	snv	2.8E-05		6
rs57983345	LMNA	0.851	0.160	1	156115034	missense variant	A/G	snv			6
rs747900252	COL6A2	0.925	0.160	21	46125776	intron variant	G/A	snv	1.1E-04	7.7E-05	6