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
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1554386687	CAMK2B	0.882	0.040	7	44242328	missense variant	C/T	snv			12
rs876657380	ARID1B	0.851	0.360	6	157181155	frameshift variant	AA/-	delins			11
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11
rs188675529	CENPT ; THAP11	0.827	0.240	16	67842794	missense variant	C/G;T	snv	1.6E-03	6.0E-04	11
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs1567010427	DYNC1H1	0.882		14	102010824	missense variant	G/A	snv			11
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs869312685	ITPR1	0.807	0.240	3	4815135	missense variant	G/A;C	snv			11
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs768933093	BBS10	0.807	0.240	12	76348214	missense variant	G/A	snv	4.8E-05	4.9E-05	10
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs775104326	CTNNB1	0.776	0.160	3	41224995	stop gained	C/A;T	snv	4.0E-06		10
rs1553603732	DES	1.000	0.160	2	219423784	frameshift variant	CCCATCCAGACCTACTC/-	delins			10
rs1555883505	EEF1A2	0.827	0.160	20	63490712	missense variant	G/A	snv			10
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10
rs387906905	TRPV4	0.882	0.120	12	109798819	missense variant	C/T	snv			10
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs121908119	WNT10A ; LOC107984111	0.763	0.200	2	218882368	stop gained	C/A	snv	6.2E-04	8.5E-04	10
rs180177040	BRAF	0.790	0.360	7	140754187	missense variant	T/C;G	snv			9
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1554122526	CAMK2A	0.882	0.040	5	150256811	missense variant	A/G	snv			9