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	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs867587467	SCN4A		17	63971173	missense variant	G/A	snv	1.2E-05	1
rs1553881510	SEPSECS		4	25155086	frameshift variant	-/T	delins		1
rs1553881788	SEPSECS		4	25156889	missense variant	T/C	snv		1
rs1293033867	SLC18A2		10	117255657	missense variant	G/C	snv		1
rs1431337923	SLC18A2		10	117255595	splice region variant	AG/-	delins	4.0E-06	1
rs1553689580	SLC6A1		3	11025543	missense variant	T/C	snv		1
rs1557045066	SLC6A8		X	153693368	splice donor variant	T/C	snv		1
rs1556889640	SMC1A ; MIR6857		X	53405893	frameshift variant	C/-	delins		1
rs769987150	SPTBN2		11	66705361	stop gained	C/A;T	snv	8.2E-06	1
rs1554120894	SYNGAP1		6	33435150	splice acceptor variant	A/G	snv		1
rs1554122402	SYNGAP1		6	33443961	splice donor variant	G/A	snv		1
rs1554304258	SYNGAP1		6	33420307	frameshift variant	G/-	del		1
rs760520604	TBX19		1	168281162	frameshift variant	TGAG/-	delins	8.0E-06	1
rs1553292105	TGFB2 ; TGFB2-AS1		1	218346929	frameshift variant	TTGCTCCAGGAGAAGGC/-	delins		1
rs1555162486	TUBA1A		12	49186402	missense variant	C/A	snv		1
rs1006898944	WDR62		19	36099453	stop gained	C/T	snv		1
rs1556004813	ZDHHC9		X	129812816	frameshift variant	G/-	del		1
rs1553255354	ACTA1	1.000	1	229431843	missense variant	C/G	snv		2
rs1553732126	ADCY5		3	123347875	frameshift variant	-/G	delins		2
rs1555528357	ANKRD11	1.000	16	89282837	frameshift variant	ATTT/-	delins		2
rs1555529297	ANKRD11	1.000	16	89284412	stop gained	C/T	snv		2
rs1553259463	AP4B1	1.000	1	113901815	stop gained	GACAT/-	delins		2
rs1554226131	ARID1B	1.000	6	157148899	frameshift variant	-/A	delins		2
rs1554237848	ARID1B	1.000	6	157207180	stop gained	G/A	snv		2
rs1554247637	ARID1B	1.000	6	156778646	frameshift variant	TGCGAGCGGCGGCC/G	delins		2