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
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs1057518794	ARX			X	25004777	frameshift variant	TCTG/-	delins			1
rs1057519521	EBF3	0.851	0.120	10	129963375	frameshift variant	TCTC/-	del			8
rs1554301637	LAMA2	0.925	0.120	6	129464289	splice acceptor variant	TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/-	delins			3
rs786205645	NEK1	0.827	0.160	4	169508827	frameshift variant	TA/-	delins			9
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs864309505	TPP1	0.807	0.200	11	6615220	missense variant	T/G	snv			10
rs886039812	DYNC2H1	0.882	0.160	11	103155395	missense variant	T/G	snv			7
rs1057518845	SOX5 ; LOC105369696	0.925	0.120	12	23755726	splice acceptor variant	T/G	snv			5
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs1057516040	NALCN	0.851	0.200	13	101292052	missense variant	T/C	snv			7
rs371582179	GLB1	0.827	0.280	3	33014057	missense variant	T/C	snv	3.6E-05	6.3E-05	7
rs724159991	TMEM186 ; ABAT	1.000	0.080	16	8781360	missense variant	T/C	snv			5
rs778899140	PDE10A	0.925		6	165450268	missense variant	T/C	snv	4.0E-06		5
rs1561500885	SMN1 ; SMN2	1.000	0.040	5	70946138	missense variant	T/C	snv			2
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs878853163	SATB2	0.925	0.200	2	199323850	stop gained	T/A;C	snv			4
rs137854544	CTSA	0.827	0.320	20	45894040	missense variant	T/A	snv	3.6E-05	4.9E-05	10
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20