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
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs121912443	SOD1	0.732	0.160	21	31663857	missense variant	A/G	snv			15
rs121918075	TTR	0.752	0.280	18	31598632	missense variant	A/G	snv			15
rs1556424691	CYTB ; ND6 ; TRNT	0.851	0.200	MT	15923	non coding transcript exon variant	A/G	snv			13
rs397514677	STIM1	0.851	0.400	11	4023928	missense variant	A/G	snv			6
rs57983345	LMNA	0.851	0.160	1	156115034	missense variant	A/G	snv			6
rs746438011	SYNE1	0.882	0.120	6	152430672	missense variant	A/G;T	snv	1.2E-05		4
rs1256028809	RTTN	1.000		18	70030114	splice region variant	A/T	snv	4.0E-06		5
rs750174047	DNAH8	1.000	0.080	6	38722964	missense variant	A/T	snv	8.2E-06		3
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs1057518805	SYT2 ; LOC105371686			1	202596928	inframe deletion	ATAGTC/-	delins			2
rs1064795760	BICD2	0.882	0.080	9	92719007	inframe deletion	ATT/-	del			14
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs1554699491	AGTPBP1	0.763	0.280	9	85596450	splice acceptor variant	C/A	snv			23
rs1373219981	ATP13A2			1	17011736	start lost	C/A	snv	1.3E-05		2
rs121908552	SCN4A ; LOC105371858	0.763	0.160	17	63964587	missense variant	C/A;G;T	snv	4.0E-06		14
rs1057518962	DMD			X	32573812	stop gained	C/A;G;T	snv	5.5E-06; 5.5E-06		6
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16