DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Generalized hypotonia

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
rs1555043939	KMT2A	0.851	0.240	11	118496323	frameshift variant	-/G	delins			9
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10
rs775835429	SLC19A3	0.925	0.040	2	227702236	frameshift variant	-/TC	delins	2.4E-05	2.1E-05	4
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs1057519443	MPP4	0.882	0.200	2	201675255	missense variant	A/G	snv			7
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs145999922	SLC19A3	0.882	0.040	2	227699378	missense variant	A/G	snv	4.4E-05	4.2E-05	5
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs397514627	CAMK2G	0.882	0.160	10	73842486	missense variant	C/A;G	snv			5
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs114638163	MIPEP	0.827	0.240	13	23805994	stop gained	C/A;T	snv	4.0E-06; 1.3E-03		10
rs1555736565	CACNA1A	0.925	0.080	19	13230191	missense variant	C/A;T	snv			3
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			12
rs377619533	ASXL3	1.000		18	33743312	stop gained	C/A;T	snv	2.8E-05		5
rs753242774	MIR1226 ; DHX30	0.882	0.120	3	47848237	missense variant	C/A;T	snv			9
rs794727792	STXBP1	0.827	0.120	9	127661140	stop gained	C/A;T	snv	4.0E-06		8
rs1135401746	GNB1	0.827	0.400	1	1806512	missense variant	C/G	snv			7
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60