DisGeNET - a database of gene-disease associations

List of associated variants

Generalized hypotonia, C1858120

Source: CURATED ×

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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
rs1554558365	TMEM67	0.925	0.120	8	93804851	inframe insertion	-/TATGAA	delins			4
rs1057516032	ATP1A3	1.000		19	41970211	protein altering variant	AGTCT/GA	delins			4
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv			10
rs1057518786	SYNGAP1	1.000		6	33441374	splice region variant	G/A	snv			5
rs1553654413	ITPR1	0.925	0.240	3	4627877	splice region variant	CGTA/-	delins			4
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1554699491	AGTPBP1	0.763	0.280	9	85596450	splice acceptor variant	C/A	snv			23
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs1555493029	COG7	0.851	0.240	16	23406263	splice acceptor variant	C/A	snv			10
rs1057518845	SOX5 ; LOC105369696	0.925	0.120	12	23755726	splice acceptor variant	T/G	snv			5
rs1554301637	LAMA2	0.925	0.120	6	129464289	splice acceptor variant	TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/-	delins			3
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs780631499	AGTPBP1	0.763	0.280	9	85588465	frameshift variant	G/-	del	4.0E-06	7.0E-06	23
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16