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
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
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
rs767982852	RUBCN	0.882	0.080	3	197694417	missense variant	T/C	snv	8.0E-06	4.9E-05	6
rs768663992	CLUAP1	0.882	0.160	16	3508407	missense variant	T/G	snv	1.3E-05	4.2E-05	5
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs749203329	MLLT1	0.882	0.080	19	6213787	missense variant	C/T	snv	2.0E-05	1.4E-05	7
rs61751035	RPS6KC1	0.882	0.160	1	213242186	missense variant	G/A	snv	2.4E-05	1.4E-05	6
rs1114167292	RUBCN	0.882	0.080	3	197704686	missense variant	C/T	snv		1.4E-05	6
rs772037717	FBXL4	0.882	0.080	6	98875675	missense variant	A/G	snv	1.2E-05	1.4E-05	8
rs769705065	CLUAP1	0.882	0.160	16	3520011	stop gained	C/T	snv		7.0E-06	5
rs782304760	KDM2B	0.925	0.080	12	121442391	missense variant	C/T	snv	2.8E-05	7.0E-06	4
rs758432471	GNB1	0.925		1	1806513	missense variant	C/T	snv		7.0E-06	4
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1114167298	GRM7	0.882	0.120	3	6861849	missense variant	T/C	snv		7.0E-06	5
rs1057518776	DYNC1H1	0.925	0.080	14	101986027	missense variant	T/A	snv			4
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6
rs1114167296	TMEM47	0.827	0.160	X	34656995	missense variant	C/G	snv			6
rs1114167300	GRM7	0.925	0.040	3	7578878	missense variant	C/T	snv			6
rs1114167301	GRM7	0.925	0.040	3	7578930	missense variant	C/A;T	snv	4.0E-06		6
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34