DisGeNET - a database of gene-disease associations

List of associated variants

Generalized hypotonia, C1858120

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
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs1131692228	ACTL6B	0.925	0.160	7	100646637	missense variant	C/T	snv			5
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1057516040	NALCN	0.851	0.200	13	101292052	missense variant	T/C	snv			7
rs886039812	DYNC2H1	0.882	0.160	11	103155395	missense variant	T/G	snv			7
rs750371878	HACE1	0.925		6	104796666	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs869312671	MTOR ; MTOR-AS1	0.882	0.160	1	11144735	missense variant	C/T	snv			5
rs1555038029	KMT2A	0.776	0.400	11	118477973	stop gained	C/A	snv			12
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs1555043939	KMT2A	0.851	0.240	11	118496323	frameshift variant	-/G	delins			9
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs794727792	STXBP1	0.827	0.120	9	127661140	stop gained	C/A;T	snv	4.0E-06		8
rs878853165	HOOK2 ; MAST1	0.882	0.200	19	12843558	missense variant	C/T	snv			6
rs1554301637	LAMA2	0.925	0.120	6	129464289	splice acceptor variant	TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/-	delins			3
rs797046136	EBF3 ; LOC105378558			10	129848391	splice donor variant	C/A	snv			1
rs1057519437	EBF3	0.851	0.240	10	129957300	missense variant	C/T	snv			6
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1057519521	EBF3	0.851	0.120	10	129963375	frameshift variant	TCTC/-	del			8
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34