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
rs1085307451	DHX30 ; MIR1226	0.925	0.160	3	47848246	missense variant	C/T	snv			4
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1131692228	ACTL6B	0.925	0.160	7	100646637	missense variant	C/T	snv			5
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins			11
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs1135401746	GNB1	0.827	0.400	1	1806512	missense variant	C/G	snv			7
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs114638163	MIPEP	0.827	0.240	13	23805994	stop gained	C/A;T	snv	4.0E-06; 1.3E-03		10
rs1164484724	MAN1B1	0.790	0.240	9	137108433	stop gained	C/T	snv		7.0E-06	13
rs121434341	CHD7	0.807	0.360	8	60855993	missense variant	C/A;T	snv			10
rs121434578	ABAT	1.000	0.080	16	8768248	missense variant	G/A	snv			5
rs12720458	KCNQ1	0.716	0.240	11	2585264	missense variant	A/G	snv	4.0E-05	1.4E-05	20
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs137854544	CTSA	0.827	0.320	20	45894040	missense variant	T/A	snv	3.6E-05	4.9E-05	10
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs1425998598	BPTF	0.763	0.240	17	67918802	missense variant	G/A;C	snv	1.2E-05		19
rs145999922	SLC19A3	0.882	0.040	2	227699378	missense variant	A/G	snv	4.4E-05	4.2E-05	5
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs1553525325	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.807	0.120	2	166002716	missense variant	A/T	snv			9
rs1553654413	ITPR1	0.925	0.240	3	4627877	splice region variant	CGTA/-	delins			4
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21