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
rs1555985372	PCDH19	1.000		X	100407591	frameshift variant	-/C	delins			2
rs1158141270	NALCN	0.925		13	101061967	splice donor variant	C/A	snv	4.0E-06		3
rs1555373511	NALCN			13	101062119	splice acceptor variant	C/G	snv			1
rs886039763	RPL36A-HNRNPH2 ; HNRNPH2	0.925		X	101412604	missense variant	C/T	snv			3
rs1429181351	GNPTAB	0.925	0.160	12	101764957	frameshift variant	TA/-	del	4.0E-06		4
rs587780564	DYNC1H1	0.882	0.080	14	101986017	missense variant	C/T	snv			5
rs1057518776	DYNC1H1	0.925	0.080	14	101986027	missense variant	T/A	snv			4
rs1555408829	DYNC1H1	1.000		14	101994794	missense variant	T/C	snv			2
rs1567010427	DYNC1H1	0.882		14	102010824	missense variant	G/A	snv			11
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs62514895	PAH	1.000	0.120	12	102917066	splice region variant	C/A;T	snv	7.2E-05		2
rs864622194	RAB9B ; PLP1	0.925	0.080	X	103776997	start lost	T/C;G	snv			3
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
rs137852540	PRPS1	0.925	0.080	X	107640936	missense variant	A/G	snv			3
rs1304422857	UBE3B	1.000		12	109511304	splice donor variant	G/A;T	snv			3
rs377357931	FIG4	1.000	0.080	6	109760253	stop gained	C/T	snv	3.6E-05	8.4E-05	2
rs747768373	FIG4			6	109792665	splice donor variant	G/A	snv	8.0E-06	2.8E-05	1
rs387906905	TRPV4	0.882	0.120	12	109798819	missense variant	C/T	snv			10
rs1555302454	COL4A1			13	110170615	missense variant	C/T	snv			1
rs1555303010	COL4A1			13	110176450	missense variant	C/T	snv			2
rs1064795935	COL4A1	1.000		13	110181389	missense variant	C/T	snv			3
rs1553689580	SLC6A1			3	11025543	missense variant	T/C	snv			1
rs794726860	SLC6A1	0.925		3	11025786	missense variant	C/T	snv			3
rs1553690452	SLC6A1	1.000		3	11028845	stop gained	C/T	snv			2