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
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs777593389	VPS13B	1.000	0.320	8	99156693	stop gained	C/T	snv	4.0E-06		3
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs78300695	TREX1 ; ATRIP-TREX1 ; ATRIP	0.882	0.200	3	48466711	frameshift variant	-/G	delins		2.1E-05	8
rs864309505	TPP1	0.807	0.200	11	6615220	missense variant	T/G	snv			10
rs878855331	TPP1	0.925	0.120	11	6617319	splice donor variant	AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/-	delins			5
rs765468645	TMEM67	0.882	0.160	8	93765413	stop gained	C/T	snv	8.0E-06	2.1E-05	5
rs1554558365	TMEM67	0.925	0.120	8	93804851	inframe insertion	-/TATGAA	delins			4
rs724159991	TMEM186 ; ABAT	1.000	0.080	16	8781360	missense variant	T/C	snv			5
rs1569146993	TCF20	0.851	0.320	22	42211700	frameshift variant	-/C	delins			5
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs1569301036	TAF1	0.827	0.240	X	71397354	missense variant	C/T	snv			17
rs1057518786	SYNGAP1	1.000		6	33441374	splice region variant	G/A	snv			5
rs1057519444	SYN3	0.925	0.120	22	32518208	missense variant	GG/AA	mnv			5
rs782609482	SURF1	1.000	0.120	9	133352060	splice donor variant	C/A;T	snv	4.1E-06		4
rs794727792	STXBP1	0.827	0.120	9	127661140	stop gained	C/A;T	snv	4.0E-06		8
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1057518845	SOX5 ; LOC105369696	0.925	0.120	12	23755726	splice acceptor variant	T/G	snv			5
rs1057518928	SOX5	1.000	0.040	12	23665471	missense variant	G/A	snv			3
rs1561498701	SMN1 ; SMN2	1.000	0.080	5	70925150	frameshift variant	-/GGATTCCG	delins			5
rs1561500885	SMN1 ; SMN2	1.000	0.040	5	70946138	missense variant	T/C	snv			2
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14