DisGeNET - a database of gene-disease associations

List of associated variants

Seizures, C0036572

Source: CURATED ×

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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
rs1556424691	CYTB ; ND6 ; TRNT	0.851	0.200	MT	15923	non coding transcript exon variant	A/G	snv			13
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			16
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs1556914274	HUWE1	0.790	0.440	X	53537626	missense variant	G/A	snv			13
rs1556620697	SH2D1A ; STAG2	0.827	0.360	X	124365758	splice region variant	C/G	snv			10
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs587783405	CDKL5	0.851	0.160	X	18588021	stop gained	C/T	snv			9
rs72554640	PGK1 ; ATP7A	0.882	0.160	X	78011239	stop gained	C/T	snv			9
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
rs1057518921	MED12	1.000		X	71132465	missense variant	G/A	snv			7
rs1557036757	HUWE1	0.925	0.240	X	53647375	missense variant	G/A	snv			7
rs886040857	EIF2S3	0.882	0.240	X	24076757	frameshift variant	TCAA/-	delins			7
rs1057518963	OPHN1	0.851	0.200	X	68210239	missense variant	A/G	snv			6
rs1064793575	SLC9A6	0.925	0.040	X	136016706	frameshift variant	GT/-	delins			6
rs121434616	CUL4B	0.925	0.080	X	120544179	stop gained	G/A	snv			6
rs61748421	MECP2	0.807	0.200	X	154031326	stop gained	G/A;T	snv			6
rs1569356968	SMC1A ; MIR6857	0.882	0.200	X	53405268	stop gained	C/A	snv			5