DisGeNET - a database of gene-disease associations

List of associated variants

Flatfoot, C0016202

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
rs1445287184	LOC105369867 ; PTPRQ	1.000	0.120	12	80670365	stop gained	C/T	snv	3.2E-05	2.8E-05	7
rs1569162748	OFD1	0.925	0.120	X	13767142	frameshift variant	AAATT/-	del			7
rs886039909	HSPG2	0.882	0.120	1	21864095	splice region variant	C/T	snv			6
rs1057518895	RAB33A ; AIFM1	1.000	0.120	X	130137134	start lost	A/G	snv			4
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1555652383	BPTF	0.807	0.160	17	67912720	frameshift variant	TG/-	delins			13
rs749895856	CPT2	0.925	0.160	1	53211110	missense variant	A/G;T	snv	1.2E-05; 4.0E-05		8
rs150168522	COL6A2	0.925	0.160	21	46132367	missense variant	G/A;C	snv	4.9E-05; 2.9E-05		4
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1555939456	RPS6KA3	0.851	0.200	X	20187956	missense variant	T/C	snv			21
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs1555247672	MED13L	0.827	0.200	12	116007542	stop gained	G/A	snv			14
rs1057520063	GLI3	0.763	0.200	7	41964641	frameshift variant	-/A	delins			13
rs201439531	CHAT	0.827	0.200	10	49664880	missense variant	C/G	snv		7.0E-06	11
rs769234940	CHAT	0.827	0.200	10	49627735	missense variant	C/T	snv	1.6E-05	2.8E-05	11
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs112550005	FBN1	0.742	0.240	15	48425829	stop gained	G/A	snv			18
rs1566911709	FBN1	0.742	0.240	15	48495502	frameshift variant	T/-	delins			15
rs1057518812	FBN1	0.827	0.240	15	48430742	missense variant	T/A	snv			6
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19
rs111854391	TGFBR1	0.716	0.280	9	99138006	stop gained	C/A;T	snv	4.0E-06		18
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13