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
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06		13
rs150940923	THOC6	1.000	0.240	16	3027170	missense variant	G/C	snv	1.8E-04	2.0E-04	3
rs1553630221	TGFBR2	1.000		3	30672234	missense variant	G/C	snv			2
rs1553292105	TGFB2 ; TGFB2-AS1			1	218346929	frameshift variant	TTGCTCCAGGAGAAGGC/-	delins			1
rs1568303086	TCF4	0.882	0.320	18	55228877	missense variant	C/A	snv			5
rs1057521070	TCF4	0.925	0.200	18	55228999	missense variant	C/T	snv			3
rs1555721921	TCF4	0.925	0.200	18	55234546	splice donor variant	A/C;G	snv			3
rs1555710171	TCF4	1.000		18	55228904	inframe deletion	GTCTGGGGCTTG/-	delins			2
rs1555778204	TCF4	1.000		18	55261525	stop gained	C/A	snv			2
rs1569110700	TCF20	0.925	0.080	22	42179633	missense variant	G/A	snv			5
rs1555923822	TCF20	1.000		22	42210236	frameshift variant	-/T	delins			3
rs1555926209	TCF20	1.000		22	42213082	stop gained	G/A	snv			3
rs1555924435	TCF20			22	42210938	frameshift variant	G/-	delins			2
rs1555925903	TCF20	1.000		22	42212621	frameshift variant	C/-	delins			2
rs760520604	TBX19			1	168281162	frameshift variant	TGAG/-	delins	8.0E-06		1
rs1553810244	TBL1XR1	1.000		3	177038369	missense variant	T/A	snv			2
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs374319146	TBCK	0.851	0.080	4	106194717	splice donor variant	C/A;T	snv	4.3E-06; 8.7E-06		6
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs1555226395	SYT1	1.000		12	79448945	missense variant	G/A	snv			2
rs1554121443	SYNGAP1 ; MIR5004	0.742	0.280	6	33438873	stop gained	C/T	snv			29
rs1554121353	SYNGAP1 ; MIR5004			6	33438527	frameshift variant	A/-	del			2
rs1131692154	SYNGAP1	0.925	0.160	6	33432700	stop gained	C/T	snv			6
rs1554122252	SYNGAP1	1.000		6	33443341	frameshift variant	CT/-	delins			3
rs1554120939	SYNGAP1	1.000		6	33435269	frameshift variant	-/CACA	delins			2