DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Short stature ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1562005199	ADGRB3	6	69382853	missense variant	G/A	snv			1
rs1562137453	ADGRB3	6	69049307	missense variant	T/C	snv			1
rs1567280099	ANKS3	16	4697038	frameshift variant	-/G	delins			1
rs1568383758	BRD4	19	15255488	missense variant	C/A	snv			1
rs1363884891	CEP76 ; PSMG2	18	12673471	missense variant	C/T	snv		7.0E-06	1
rs1560739587	CLGN	4	140396131	missense variant	T/C	snv			1
rs1560743601	CLGN	4	140405975	missense variant	G/T	snv			1
rs201306926	CLGN	4	140399004	missense variant	T/C	snv	3.6E-05	7.0E-06	1
rs1557810606	CLIC4	1	24814131	missense variant	C/T	snv			1
rs984649575	CLIP1	12	122377616	stop gained	G/A	snv		2.1E-05	1
rs375633720	CPZ ; GPR78	4	8601494	missense variant	C/T	snv	2.8E-05	4.2E-05	1
rs1557853919	DENND4B	1	153939040	missense variant	G/A	snv			1
rs768564744	DNAH17	17	78525107	missense variant	C/G;T	snv	4.0E-06; 4.0E-05		1
rs763505389	DNAH17 ; DNAH17-AS1	17	78491549	missense variant	C/T	snv	1.6E-05	7.0E-06	1
rs201435914	DPRX	19	53636878	stop gained	C/T	snv	3.5E-04	3.6E-04	1
rs1558053119	EDEM3	1	184717581	missense variant	A/C	snv			1
rs765435034	EDEM3	1	184694431	missense variant	C/A	snv	2.9E-05		1
rs1259852690	FBRS	16	30669598	missense variant	C/G	snv	4.2E-06	2.8E-05	1
rs1567547614	FBRS	16	30668622	missense variant	G/A	snv			1
rs1441510334	FGF18	5	171436234	missense variant	C/T	snv		7.0E-06	1
rs1568105562	FZD2	17	44559091	missense variant	T/G	snv			1
rs998297769	GABRE	X	151962587	stop gained	G/T	snv	1.1E-05	2.8E-05	1
rs775707132	GPR78 ; CPZ	4	8612120	missense variant	G/A;T	snv	1.6E-05; 2.0E-05		1
rs1569148952	H2AP ; SYTL5	X	37991160	frameshift variant	TG/-	del			1
rs148723879	HKDC1	10	69246212	missense variant	C/T	snv	9.9E-05	1.2E-04	1