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	AF GENOME	Num. diseases
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv			15
rs759244819	ALG12	0.882	0.120	22	49904498	frameshift variant	T/-	delins		2.8E-05	3
rs761221480	ALG12	0.882	0.120	22	49913649	frameshift variant	C/-	del	1.6E-05	7.0E-06	3
rs1557570794	ARID1A	0.742	0.120	1	26697152	frameshift variant	-/GCCGCCTCCCTCCTCCAGCGCC	delins			15
rs386833760	CC2D2A	0.790	0.360	4	15587929	splice donor variant	G/-	delins		1.9E-04	11
rs1553827236	CC2D2A	0.882	0.200	4	15516757	splice donor variant	G/A	snv			7
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs121908620	CHST3	0.925	0.080	10	72007888	missense variant	T/C	snv			2
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs1057518871	COL5A1	0.925	0.120	9	134798410	frameshift variant	C/-	delins			10
rs1135056	COL9A1	1.000	0.080	6	70252130	missense variant	T/C	snv	0.37	0.38	1
rs35470562	COL9A1	1.000	0.080	6	70240718	missense variant	C/T	snv		7.0E-06	1
rs592121	COL9A1	1.000	0.080	6	70274733	missense variant	A/G;T	snv	0.40		1
rs766335907	COMP	0.851	0.200	19	18787632	missense variant	G/A;T	snv	8.0E-06; 8.0E-06		4
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
rs138659167	DHCR7	0.807	0.320	11	71435840	splice acceptor variant	C/A;G	snv	5.6E-05; 3.9E-03		20
rs1032242817	DHCR7	0.807	0.320	11	71441307	stop gained	C/T	snv	8.0E-06	7.0E-06	17
rs1554846212	DUPD1 ; KAT6B	0.851	0.160	10	75030037	missense variant	C/T	snv			9
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs1470699812	FLNB	0.925	0.120	3	58143562	inframe deletion	AGG/-	delins	8.0E-06		5
rs771785420	GAN	0.851	0.120	16	81357848	missense variant	C/G;T	snv	4.0E-06		8
rs3801776	HOXA9 ; HOXA10-HOXA9	1.000	0.080	7	27165663	intron variant	A/G	snv		0.73	1
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06		18
rs730882245	KIAA1109	0.827	0.160	4	122207168	stop gained	T/A	snv			6