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	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1563765580	RUNX1T1			8	92017274	frameshift variant	-/A	ins			1
rs80338903	USH2A	0.701	0.360	1	216247095	frameshift variant	C/-	del	7.6E-04	5.4E-04	25
rs1561873941	CUL7	0.925	0.200	6	43040335	frameshift variant	T/-	del			10
rs1057518939	VPS13B	1.000	0.040	8	99511424	frameshift variant	A/-	del			9
rs1057519334	NPR2	0.925	0.040	9	35802550	frameshift variant	C/-	del			7
rs1569162748	OFD1	0.925	0.120	X	13767142	frameshift variant	AAATT/-	del			7
rs1565191262	FAM111B	1.000	0.080	11	59125559	frameshift variant	T/-	del			4
rs1569148952	H2AP ; SYTL5			X	37991160	frameshift variant	TG/-	del			1
rs782144677	LINC00624 ; CHD1L			1	147285398	frameshift variant	A/-	del	2.8E-05	2.1E-05	1
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs527656756	MTA3 ; HAAO	0.716	0.400	2	42770143	frameshift variant	-/A	delins	1.7E-05	1.4E-05	21
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs760929207	OBSL1	0.925	0.200	2	219568050	splice donor variant	ACCTTTGACTG/-	delins	8.1E-06	7.0E-06	12
rs1057518834	DMD			X	32849737	frameshift variant	C/-	delins			9
rs1555535032	NF1	0.882	0.120	17	31338734	frameshift variant	TTAC/-	delins			9