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
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs1057519443	MPP4	0.882	0.200	2	201675255	missense variant	A/G	snv			7
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
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
rs775835429	SLC19A3	0.925	0.040	2	227702236	frameshift variant	-/TC	delins	2.4E-05	2.1E-05	4
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
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			12
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1064795559	MORC2	0.752	0.320	22	30946373	missense variant	G/A	snv			29
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs1057519444	SYN3	0.925	0.120	22	32518208	missense variant	GG/AA	mnv			5
rs1057518786	SYNGAP1	1.000		6	33441374	splice region variant	G/A	snv			5
rs377619533	ASXL3	1.000		18	33743312	stop gained	C/A;T	snv	2.8E-05		5
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs753242774	MIR1226 ; DHX30	0.882	0.120	3	47848237	missense variant	C/A;T	snv			9
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37