DisGeNET - a database of gene-disease associations

List of associated variants

Neonatal Hypotonia, C2267233

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
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	23
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs12720458	KCNQ1	0.716	0.240	11	2585264	missense variant	A/G	snv	4.0E-05	1.4E-05	20
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs587783772	MTM1	0.776	0.200	X	150659665	missense variant	G/A;T	snv			14
rs1563221666	SFTPC	0.882	0.120	8	22162694	missense variant	C/T	snv			14
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1421405659	MYBPC1	0.851	0.360	12	101642529	missense variant	T/C;G	snv			13
rs763028380	ABCC8	0.851	0.320	11	17453271	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		12
rs35135520	TIMM50	0.827	0.200	19	39480879	stop gained	C/A;G;T	snv	3.1E-03; 4.6E-06		12
rs776019250	TIMM50	0.827	0.200	19	39482885	stop gained	G/C;T	snv	4.0E-06		12
rs387906692	FAM20A ; PRKAR1A	0.752	0.480	17	68530405	stop gained	C/T	snv			11
rs587777446	IFIH1	0.807	0.200	2	162273913	missense variant	C/T	snv	4.0E-06		11