DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Muscle 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
rs1057518776	DYNC1H1	0.925	0.080	14	101986027	missense variant	T/A	snv			4
rs1567010427	DYNC1H1	0.882		14	102010824	missense variant	G/A	snv			11
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs374319146	TBCK	0.851	0.080	4	106194717	splice donor variant	C/A;T	snv	4.3E-06; 8.7E-06		6
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			17
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs782304760	KDM2B	0.925	0.080	12	121442391	missense variant	C/T	snv	2.8E-05	7.0E-06	4
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1554122526	CAMK2A	0.882	0.040	5	150256811	missense variant	A/G	snv			9
rs782596945	ATP2B3	0.851	0.120	X	153580229	missense variant	G/A;T	snv	5.5E-06		8
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			17
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53