DisGeNET - a database of gene-disease associations

List of associated variants

SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, C1848934

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
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs557849165	MYH3	0.776	0.160	17	10656089	splice donor variant	C/T	snv		1.2E-03	9
rs1567552713	MYH3	0.827	0.120	17	10633590	splice donor variant	C/T	snv			7
rs1567558314	MYH3	0.807	0.080	17	10643215	intron variant	CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/-	delins			7
rs1567564042	MYH3	0.827	0.120	17	10654924	stop gained	A/C	snv			6
rs1350968647	MYH3	0.851	0.080	17	10642825	splice donor variant	C/T	snv		7.0E-06	5
rs80356517	FLNB	0.925	0.080	3	58108461	stop gained	C/T	snv	4.0E-06		2
rs80356519	FLNB	0.925	0.080	3	58110138	stop gained	C/T	snv	4.0E-06	7.0E-06	2
rs80356520	FLNB	0.925	0.080	3	58136126	stop gained	C/G;T	snv	3.6E-05		2
rs80356521	FLNB	0.925	0.080	3	58153412	frameshift variant	C/-	delins			2
rs1555527166	MYH3	0.925	0.080	17	10648563	inframe deletion	GAG/-	delins			2
rs771300756	MYH3	0.925	0.080	17	10641342	frameshift variant	AAATT/-	delins	8.0E-06		2
rs121908897	FLNB	1.000	0.080	3	58148771	stop gained	C/T	snv	4.0E-06		1
rs121908898	FLNB	1.000	0.080	3	58146043	stop gained	G/T	snv	4.0E-06		1
rs1553701033	FLNB	1.000	0.080	3	58123409	frameshift variant	GTGAAGCTGG/-	delins			1
rs1553703909	FLNB	1.000	0.080	3	58136073	frameshift variant	ATTG/-	delins			1
rs746105983	FLNB	1.000	0.080	3	58104061	frameshift variant	G/-;GG	delins			1
rs1567556169	MYH3	1.000	0.080	17	10639786	frameshift variant	A/-	delins			1
rs1567557697	MYH3	1.000	0.080	17	10642265	missense variant	A/C	snv			1