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
rs387906789	VCP	0.742	0.200	9	35065352	missense variant	G/A;C	snv	4.0E-06		14
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
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs1064795559	MORC2	0.752	0.320	22	30946373	missense variant	G/A	snv			29
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs121918075	TTR	0.752	0.280	18	31598632	missense variant	A/G	snv			15
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1554699491	AGTPBP1	0.763	0.280	9	85596450	splice acceptor variant	C/A	snv			23
rs780631499	AGTPBP1	0.763	0.280	9	85588465	frameshift variant	G/-	del	4.0E-06	7.0E-06	23
rs121908552	SCN4A ; LOC105371858	0.763	0.160	17	63964587	missense variant	C/A;G;T	snv	4.0E-06		14
rs61672878	LMNA	0.776	0.200	1	156136094	missense variant	G/A;T	snv			11
rs80338957	SCN4A	0.776	0.160	17	63957427	missense variant	G/A	snv			11
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs267607261	MPV17	0.807	0.280	2	27312753	stop gained	C/T	snv	8.0E-06		28
rs80359473	BRCA2	0.807	0.400	13	32339288	frameshift variant	GAAA/-	delins			12
rs59962885	DES	0.807	0.200	2	219420939	missense variant	G/A;C;T	snv	6.8E-05		11
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			10
rs142000963	LMNA	0.807	0.240	1	156138719	missense variant	C/A;T	snv	1.2E-03		8
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20