DisGeNET - a database of gene-disease associations

List of associated variants

Muscle hypotonia, C0026827

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
rs876657380	ARID1B	0.851	0.360	6	157181155	frameshift variant	AA/-	delins			11
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs1553603732	DES	1.000	0.160	2	219423784	frameshift variant	CCCATCCAGACCTACTC/-	delins			10
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs587779766	AHDC1	0.851	0.200	1	27549742	frameshift variant	CA/-	delins			7
rs587779767	AHDC1	0.851	0.200	1	27549218	frameshift variant	G/-	delins			7
rs587779768	AHDC1	0.851	0.200	1	27549569	frameshift variant	G/-	delins			7
rs61750241	MECP2	0.807	0.080	X	154031022	frameshift variant	C/-	delins			7
rs1057519463	HEXA	0.882	0.240	15	72349160	frameshift variant	GAACTCAT/-	delins			6
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6
rs542489955	LOC105375215 ; FKBP14	0.851	0.120	7	30019110	frameshift variant	-/G	delins	5.5E-04	5.4E-04	6
rs80359541	BRCA2	0.882	0.200	13	32340183	frameshift variant	C/-	del	8.0E-06		6
rs1567498374	KARS1	0.882	0.160	16	75630493	frameshift variant	G/-;GG	delins			5
rs587779388	AP4B1 ; AP4B1-AS1	1.000		1	113898755	frameshift variant	GT/-	delins	1.4E-04	1.5E-04	5
rs782297546	KMT2A	0.925	0.240	11	118473471	frameshift variant	C/-;CC	delins			5
rs878855327	ANKRD11	0.925	0.280	16	89279750	frameshift variant	G/-;GG	delins			5
rs1429181351	GNPTAB	0.925	0.160	12	101764957	frameshift variant	TA/-	del	4.0E-06		4
rs1554599036	CHD7	1.000		8	60828698	frameshift variant	GAACACTGTGGAAGAAC/-	del			4
rs1555899177	SON	1.000		21	33554005	frameshift variant	ACTC/-	del			4
rs1555902810	RBFOX2	1.000		22	35781685	frameshift variant	-/A	delins			4
rs606231128	DOK7	0.882	0.120	4	3493106	frameshift variant	-/TGCC	delins			4
rs730882197	C12orf4	0.925	0.040	12	4525342	frameshift variant	-/GTTT	delins			4
rs777218310	ECHS1	0.925		10	133369907	frameshift variant	TA/-	delins	1.6E-05	1.3E-04	4
rs778127154	ALDH5A1	1.000	0.120	6	24515259	frameshift variant	T/-	del	5.6E-05		4