DisGeNET - a database of gene-disease associations

List of shared variants

Generalized hypotonia, C1858120

Disease: Global developmental delay

Source: CLINVAR ×

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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
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs1057518786	SYNGAP1	1.000		6	33441374	splice region variant	G/A	snv			5
rs1057519444	SYN3	0.925	0.120	22	32518208	missense variant	GG/AA	mnv			5
rs794727792	STXBP1	0.827	0.120	9	127661140	stop gained	C/A;T	snv	4.0E-06		8
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs145999922	SLC19A3	0.882	0.040	2	227699378	missense variant	A/G	snv	4.4E-05	4.2E-05	4
rs775835429	SLC19A3	0.925	0.040	2	227702236	frameshift variant	-/TC	delins	2.4E-05	2.1E-05	4
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs72554640	PGK1 ; ATP7A	0.882	0.160	X	78011239	stop gained	C/T	snv			9
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1569190079	PDHA1	0.882	0.160	X	19350044	missense variant	G/T	snv			10
rs778899140	PDE10A	0.925		6	165450268	missense variant	T/C	snv	4.0E-06		3
rs1057519443	MPP4	0.882	0.200	2	201675255	missense variant	A/G	snv			7
rs1064795559	MORC2	0.752	0.320	22	30946373	missense variant	G/A	snv			29
rs753242774	MIR1226 ; DHX30	0.882	0.120	3	47848237	missense variant	C/A;T	snv			9
rs114638163	MIPEP	0.827	0.240	13	23805994	stop gained	C/A;T	snv	4.0E-06; 1.3E-03		10
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		19
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs61748421	MECP2	0.807	0.200	X	154031326	stop gained	G/A;T	snv			6
rs1057519566	MDH2	0.851	0.160	7	76063579	missense variant	C/T	snv			7
rs1057519567	MDH2	0.882	0.040	7	76063554	frameshift variant	G/-	delins			5