DisGeNET - a database of gene-disease associations

List of associated variants

Jeune thoracic dystrophy, C0265275

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
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs140511594	TTC21B ; TTC21B-AS1	0.742	0.360	2	165941111	missense variant	G/A	snv	1.3E-04	1.1E-04	13
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
rs387906980	WDR19	0.807	0.200	4	39231943	missense variant	T/C	snv	1.2E-05	2.8E-05	6
rs771487311	DYNC2H1	0.882	0.120	11	103255530	missense variant	T/C	snv	1.9E-05	7.0E-05	5
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
rs200649783	WDR35	0.827	0.120	2	19969556	missense variant	C/A	snv	2.4E-05	2.8E-05	5
rs199952377	WDR35	0.851	0.160	2	19941796	stop gained	A/C	snv	1.6E-04	1.9E-04	4
rs181011657	DYNC2H1	0.882	0.120	11	103257719	stop gained	C/T	snv	6.8E-05	1.4E-04	3
rs431905521	IFT140 ; LOC105371046	0.882	0.320	16	1587961	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		3
rs138004478	IFT80 ; TRIM59-IFT80	0.882	0.120	3	160356069	missense variant	C/G;T	snv	6.8E-05		3
rs200335504	IFT81	0.882	0.120	12	110192683	stop gained	C/T	snv	2.6E-05	7.7E-05	3
rs748656635	WDR19	0.882	0.120	4	39205626	frameshift variant	-/A	delins	3.6E-05	4.2E-05	3
rs1178331074	DYNC2H1	0.925	0.120	11	103129005	splice region variant	G/A	snv	4.2E-06		2
rs1350329646	DYNC2H1	0.925	0.120	11	103192150	missense variant	C/A;T	snv	5.1E-06; 5.1E-06		2
rs137853031	DYNC2H1	0.925	0.120	11	103185032	missense variant	G/A	snv	4.0E-06		2