DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Generalized hypotonia ×

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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
rs1557106484	ATRX			X	77633315	missense variant	C/A	snv			7
rs1057518794	ARX			X	25004777	frameshift variant	TCTG/-	delins			1
rs1057519450	HEATR4 ; ACOT1			14	73537826	frameshift variant	AGCCGGTGCGCGCG/-	delins			1
rs797046136	EBF3 ; LOC105378558			10	129848391	splice donor variant	C/A	snv			1
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		19
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			23
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	46
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs12720458	KCNQ1	0.716	0.240	11	2585264	missense variant	A/G	snv	4.0E-05	1.4E-05	20