DisGeNET - a database of gene-disease associations

List of associated variants

Difficulty walking, C0311394

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
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs267607261	MPV17	0.807	0.280	2	27312753	stop gained	C/T	snv	8.0E-06		28
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs781565158	PYROXD1	0.851	0.120	12	21452130	missense variant	A/G	snv	4.7E-05	2.1E-05	22
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs1565930588	HSPB8	0.882	0.160	12	119193787	frameshift variant	TACTCAACATTTGG/-	del			19
rs142433332	DARS2	0.807	0.160	1	173831632	splice donor variant	T/A;C;G	snv	8.0E-06; 3.3E-04; 4.0E-06		14
rs1553201258	DARS2	0.807	0.160	1	173828312	non coding transcript exon variant	TT/C	delins			14
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs778768583	CAPN3	0.851	0.120	15	42410958	missense variant	G/C	snv	8.0E-06		10
rs886042108	CAPN3	0.851	0.120	15	42409930	splice acceptor variant	G/C;T	snv			10
rs121908096	CYP27A1	0.827	0.320	2	218814186	missense variant	C/A;T	snv	8.0E-06; 2.9E-04		10
rs886556800	CYP27A1	0.827	0.320	2	218809576	splice acceptor variant	G/T	snv			10
rs201892814	CAPN3	1.000	0.040	15	42403721	intron variant	C/G	snv	3.1E-03; 2.4E-05	3.1E-03	8
rs121909112	HSPB1	0.882	0.080	7	76303855	missense variant	C/G	snv			7
rs143003434	SPAST	1.000	0.080	2	32098840	missense variant	G/A	snv	3.2E-05	3.5E-05	7
rs747900252	COL6A2	0.925	0.160	21	46125776	intron variant	G/A	snv	1.1E-04	7.7E-05	6
rs1555889127	KCNB1 ; LOC105372649	1.000	0.040	20	49374625	missense variant	C/T	snv			6
rs1553521119	DYSF	0.925	0.120	2	71513892	frameshift variant	C/-	del			5
rs1057518943	IGHMBP2	1.000	0.120	11	68906163	missense variant	G/A;C	snv	8.0E-06		5
rs201689565	SPG11	1.000	0.080	15	44584299	missense variant	A/G	snv	4.8E-05	1.0E-04	5