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
rs1553292105	TGFB2 ; TGFB2-AS1			1	218346929	frameshift variant	TTGCTCCAGGAGAAGGC/-	delins			1
rs886039477	ANKRD11	0.925	0.280	16	89282771	frameshift variant	TT/-	delins			3
rs1553693712	BRPF1	1.000		3	9734167	frameshift variant	TT/-	delins			2
rs1555301854	SOX5	1.000		12	23734746	frameshift variant	TT/-	del			2
rs1555912285	ASXL1	1.000		20	32435475	frameshift variant	TGTTGAGC/CAA	delins			3
rs1554247637	ARID1B	1.000		6	156778646	frameshift variant	TGCGAGCGGCGGCC/G	delins			2
rs1555912049	PTCHD1			X	23379829	frameshift variant	TGCACAGCAAAGAC/-	del			2
rs760520604	TBX19			1	168281162	frameshift variant	TGAG/-	delins	8.0E-06		1
rs1555937168	GJB1	1.000	0.080	X	71224099	frameshift variant	TG/-	delins			3
rs747661902	PIGQ	1.000		16	578404	frameshift variant	TG/-	del	2.8E-05	2.1E-05	3
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs1553544102	SATB2	1.000		2	199308769	frameshift variant	TC/-	delins			2
rs1429181351	GNPTAB	0.925	0.160	12	101764957	frameshift variant	TA/-	del	4.0E-06		4
rs777218310	ECHS1	0.925		10	133369907	frameshift variant	TA/-	delins	1.6E-05	1.3E-04	4
rs1557196978	ATP6AP1	0.851	0.120	X	154432444	missense variant	T/G	snv			8
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs768663992	CLUAP1	0.882	0.160	16	3508407	missense variant	T/G	snv	1.3E-05	4.2E-05	5
rs387906639	HARS1 ; DND1	0.925	0.120	5	140674776	missense variant	T/G	snv	2.0E-05	9.1E-05	4
rs201337850	MRPS22			3	139348309	stop gained	T/G	snv	4.0E-06	7.0E-06	2
rs1554094278	GABRB2			5	161336685	missense variant	T/G	snv			1
rs1554412300	FOXP2			7	114534645	stop gained	T/G	snv			1
rs141138948	EXOSC3	0.807	0.120	9	37783993	missense variant	T/C;G	snv	4.1E-04		9
rs180177040	BRAF	0.790	0.360	7	140754187	missense variant	T/C;G	snv			9
rs1057519464	HEXA	0.925	0.160	15	72347711	missense variant	T/C;G	snv	4.0E-06		7
rs1488635637	MKS1	0.827	0.360	17	58208003	splice acceptor variant	T/C;G	snv		7.0E-06	6