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
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1569301036	TAF1	0.827	0.240	X	71397354	missense variant	C/T	snv			17
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
rs587783772	MTM1	0.776	0.200	X	150659665	missense variant	G/A;T	snv			14
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14
rs1563221666	SFTPC	0.882	0.120	8	22162694	missense variant	C/T	snv			14
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs1164484724	MAN1B1	0.790	0.240	9	137108433	stop gained	C/T	snv		7.0E-06	13
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs763028380	ABCC8	0.851	0.320	11	17453271	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		12
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			12
rs1555038029	KMT2A	0.776	0.400	11	118477973	stop gained	C/A	snv			12
rs1555570093	MPDU1	0.807	0.280	17	7586699	missense variant	G/A	snv			12
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs797045283	ARID1B	0.827	0.320	6	157207109	stop gained	C/T	snv			11
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11