DisGeNET - a database of gene-disease associations

List of shared variants

Short ribs, C0426817

Disease: Jeune thoracic dystrophy

Source: ALL

Results per page

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
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs1565329461	DYNC2H1	0.851	0.200	11	103135949	splice donor variant	G/A	snv			9
rs371011047	DYNC2H1	0.882	0.120	11	103120982	stop gained	G/T	snv		2.8E-05	9
rs764926983	DYNC2H1	0.882	0.120	11	103287559	synonymous variant	G/A	snv	1.2E-05		9
rs1260978141	DYNC2H1	1.000	0.120	11	103125293	stop gained	C/T	snv	4.5E-06		8
rs752659088	KIAA0753	0.882	0.240	17	6624770	synonymous variant	G/A	snv	6.5E-05		8
rs1565311145	DYNC2H1	0.882	0.120	11	103116677	stop gained	T/A	snv			7
rs767846762	DYNC2H1	0.882	0.120	11	103176241	frameshift variant	AA/-	delins	1.0E-05		7
rs1565317399	DYNC2H1	0.882	0.120	11	103122879	stop gained	C/T	snv			6
rs376892534	DYNC2H1	0.925	0.120	11	103184880	intron variant	G/A	snv	8.1E-06		6
rs1566883760	KIAA0586	0.925	0.120	14	58487978	frameshift variant	T/-	delins			5
rs747165335	WDR19	0.882	0.200	4	39278156	frameshift variant	ACGG/-	delins	8.4E-06		5
rs771487311	DYNC2H1	0.882	0.120	11	103255530	missense variant	T/C	snv	1.9E-05	7.0E-05	5