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
rs1006898944	WDR62			19	36099453	stop gained	C/T	snv			1
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			9
rs1057516904	MCOLN1	0.925	0.160	19	7528881	frameshift variant	-/A	delins			3
rs1057517825	DERL3 ; SMARCB1	0.925		22	23834143	missense variant	G/A	snv			4
rs1057517858	TUBA1A	0.925	0.240	12	49185714	missense variant	C/A;T	snv			3
rs1057518496	SATB2	1.000		2	199349006	stop gained	G/A	snv			2
rs1057518776	DYNC1H1	0.925	0.080	14	101986027	missense variant	T/A	snv			4
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1057519430	DDX3X	0.925		X	41346946	missense variant	C/T	snv			5
rs1057519463	HEXA	0.882	0.240	15	72349160	frameshift variant	GAACTCAT/-	delins			6
rs1057519464	HEXA	0.925	0.160	15	72347711	missense variant	T/C;G	snv	4.0E-06		7
rs1057519465	HEXA	0.925	0.160	15	72346598	stop gained	C/T	snv	4.0E-06		7
rs1057519467	HEXA	0.925	0.160	15	72345540	missense variant	C/T	snv			5
rs1057519468	HEXA	0.925	0.160	15	72345518	stop gained	C/T	snv	4.0E-06		6
rs1057519632	CDK13	1.000		7	39999467	missense variant	G/A	snv			2
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11
rs1057521070	TCF4	0.925	0.200	18	55228999	missense variant	C/T	snv			3
rs1057521223	SCN2A	1.000	0.040	2	165373339	stop gained	G/A;T	snv			5
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1064795935	COL4A1	1.000		13	110181389	missense variant	C/T	snv			3
rs1064796453	CTNNB1			3	41235799	stop gained	C/A;T	snv			2
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1114167292	RUBCN	0.882	0.080	3	197704686	missense variant	C/T	snv		1.4E-05	6
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6