DisGeNET - a database of gene-disease associations

List of associated variants

Congenital clubfoot, C0009081

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	Num. diseases
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv		56
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv		54
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv		34
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv		31
rs1555630216	PIEZO2	0.790	0.160	18	10714931	splice acceptor variant	C/T	snv		22
rs1555648288	PIEZO2	0.790	0.160	18	10795003	splice acceptor variant	C/T	snv		22
rs138659167	DHCR7	0.807	0.320	11	71435840	splice acceptor variant	C/A;G	snv	5.6E-05; 3.9E-03	20
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06	18
rs267607144	TRPV4	0.716	0.360	12	109800665	missense variant	C/T	snv		17
rs1557570794	ARID1A	0.742	0.120	1	26697152	frameshift variant	-/GCCGCCTCCCTCCTCCAGCGCC	delins		15
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv		15
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04	14
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
rs1555247672	MED13L	0.827	0.200	12	116007542	stop gained	G/A	snv		14
rs61752129	PEX26	0.776	0.240	22	18078405	frameshift variant	C/-;CC	delins		14
rs771237928	NOTCH2	0.752	0.280	1	119915813	frameshift variant	G/-;GG	delins		14
rs1057518871	COL5A1	0.925	0.120	9	134798410	frameshift variant	C/-	delins		10
rs387906905	TRPV4	0.882	0.120	12	109798819	missense variant	C/T	snv		10
rs1554846212	DUPD1 ; KAT6B	0.851	0.160	10	75030037	missense variant	C/T	snv		9
rs780770356	PLOD2 ; LNCSRLR	0.851	0.120	3	146071125	stop gained	G/A	snv		9
rs771785420	GAN	0.851	0.120	16	81357848	missense variant	C/G;T	snv	4.0E-06	8
rs1553827236	CC2D2A	0.882	0.200	4	15516757	splice donor variant	G/A	snv		7
rs730882245	KIAA1109	0.827	0.160	4	122207168	stop gained	T/A	snv		6
rs1470699812	FLNB	0.925	0.120	3	58143562	inframe deletion	AGG/-	delins	8.0E-06	5