DisGeNET - a database of gene-disease associations

List of associated variants

Short long bone, C1854912

Source: CLINVAR ×

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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
rs121908425	EVC ; CRMP1	0.763	0.160	4	5748226	stop gained	C/A;T	snv	3.2E-05; 1.2E-05		14
rs1135401744	KYNU	0.776	0.120	2	142918608	splice acceptor variant	G/T	snv	1.4E-04		14
rs753317536	EVC	0.790	0.160	4	5719239	intron variant	G/A;C	snv	8.0E-06; 4.0E-06		12
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
rs771148519	WDR19	0.807	0.200	4	39225027	stop gained	C/G	snv	1.7E-05	1.4E-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
rs758865880	KYNU	0.807	0.280	2	142956235	stop gained	T/A	snv	7.2E-05	4.9E-05	8
rs770642379	KYNU	0.807	0.280	2	143040430	frameshift variant	TTTAAGC/-	delins	3.2E-05	2.8E-05	8
rs1057516045	LBR	0.925	0.160	1	225403404	stop gained	G/A	snv	1.6E-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