DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Seizures

Source: INFERRED ×

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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
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			8
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1553920383	PPP3CA	0.925		4	101032350	frameshift variant	TC/-	delins			3
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1057518961	DYNC1H1	0.925	0.040	14	102012450	missense variant	C/T	snv			5
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs750371878	HACE1	0.925		6	104796666	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			16
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs121434616	CUL4B	0.925	0.080	X	120544179	stop gained	G/A	snv			6
rs752134549	RSRC2	0.827	0.200	12	122517404	missense variant	C/T	snv	1.6E-05	7.0E-06	6
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1555155556	BORCS5	0.851	0.120	12	12435627	splice acceptor variant	G/T	snv			6
rs1554776954	STXBP1	1.000		9	127661133	frameshift variant	A/-	delins			5
rs796053353	STXBP1	0.882	0.120	9	127661192	missense variant	C/T	snv			6
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs764774411	GCDH	0.925	0.120	19	12896052	missense variant	G/C	snv	4.0E-06		3
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs758723288	ECHS1	0.882	0.120	10	133370686	missense variant	G/A	snv	1.2E-05	1.4E-05	4
rs1064793575	SLC9A6	0.925	0.040	X	136016706	frameshift variant	GT/-	delins			6
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs587783000	PURA	0.925	0.080	5	140114444	inframe deletion	TCG/-	del			5
rs587782999	PURA	0.882	0.080	5	140114446	missense variant	G/A;C	snv			5
rs587782994	PURA	0.882	0.080	5	140114470	missense variant	A/G	snv			6