DisGeNET - a database of gene-disease associations

List of associated variants

Small hand, C0575802

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
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs1567368243	SIN3A	0.882	0.040	15	75411651	frameshift variant	-/T	delins			9
rs1057518939	VPS13B	1.000	0.040	8	99511424	frameshift variant	A/-	del			9
rs386834061	VPS13B	0.925	0.360	8	99868312	stop gained	C/T	snv		2.1E-05	10
rs1172486173	MIR6890 ; QARS1	0.882	0.160	3	49099606	missense variant	T/C	snv	4.0E-06		11
rs185476065	MIR6890 ; QARS1	0.882	0.160	3	49100222	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		11
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	17
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs1553154130	RERE	0.807	0.280	1	8358231	missense variant	T/A;C	snv			18
rs1558939623	CHN1	0.732	0.480	2	174824479	missense variant	C/T	snv			19
rs771409809	WFS1	0.732	0.480	4	6301794	stop gained	C/T	snv	6.0E-05	7.0E-06	19
rs864309487	GMNN	0.763	0.280	6	24777279	frameshift variant	TCAA/-	delins			20
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22
rs1554699491	AGTPBP1	0.763	0.280	9	85596450	splice acceptor variant	C/A	snv			23
rs780631499	AGTPBP1	0.763	0.280	9	85588465	frameshift variant	G/-	del	4.0E-06	7.0E-06	23
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs137854889	ZMPSTE24	0.742	0.440	1	40290871	frameshift variant	T/-;TT	delins			31
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			35
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51