DisGeNET - a database of gene-disease associations

List of associated variants

Central hypotonia, C1842364

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
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17
rs75184679	RNASEH2B	0.776	0.360	13	50945445	missense variant	G/A	snv	1.4E-03	1.4E-03	16
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs1554199368	NSD1	0.827	0.160	5	177256956	missense variant	C/T	snv			12
rs750195040	POMT1	0.827	0.160	9	131506164	inframe deletion	CTT/-	delins	3.2E-05	7.0E-06	12
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
rs869312704	TBR1	0.882	0.160	2	161423752	frameshift variant	-/GGCTGCA	delins			10
rs864309483	ADCY5	0.851	0.080	3	123352464	missense variant	G/A	snv			9
rs1557569831	SZT2	0.925	0.120	1	43431458	splice acceptor variant	A/G	snv			8
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8
rs1564062144	HNRNPK	1.000		9	83972190	splice acceptor variant	C/T	snv			7
rs1554943158	DEAF1	0.882	0.040	11	681045	inframe deletion	CTT/-	delins			6
rs1555642784	CNTNAP1	0.851	0.160	17	42688979	frameshift variant	-/C	delins			5
rs1057518845	SOX5 ; LOC105369696	0.925	0.120	12	23755726	splice acceptor variant	T/G	snv			5
rs1057518822	CEP290	1.000	0.080	12	88102888	stop gained	G/A	snv			4
rs1060499939	SPAST	0.882	0.120	2	32137172	missense variant	G/C;T	snv			4