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
rs777593389	VPS13B	1.000	0.320	8	99156693	stop gained	C/T	snv	4.0E-06		3
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
rs1554558365	TMEM67	0.925	0.120	8	93804851	inframe insertion	-/TATGAA	delins			4
rs765468645	TMEM67	0.882	0.160	8	93765413	stop gained	C/T	snv	8.0E-06	2.1E-05	5
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs869312698	MEF2C	0.925	0.160	5	88804785	missense variant	C/T	snv			5
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs724159991	TMEM186 ; ABAT	1.000	0.080	16	8781360	missense variant	T/C	snv			5
rs121434578	ABAT	1.000	0.080	16	8768248	missense variant	G/A	snv			5
rs724159990	ABAT	1.000	0.080	16	8768220	missense variant	C/T	snv			5
rs724159992	ABAT	1.000	0.080	16	8750498	missense variant	G/A	snv		1.4E-05	5
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins			11
rs1554699491	AGTPBP1	0.763	0.280	9	85596450	splice acceptor variant	C/A	snv			23
rs780631499	AGTPBP1	0.763	0.280	9	85588465	frameshift variant	G/-	del	4.0E-06	7.0E-06	23
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1562203136	PHIP	0.882	0.120	6	79042902	frameshift variant	-/T	ins			9
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs755604487	PHIP	0.790	0.200	6	79026079	stop gained	G/A;C	snv			10
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19