DisGeNET - a database of gene-disease associations

List of associated variants

Kyphosis deformity of spine, C0022821

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
rs1569301036	TAF1	0.827	0.240	X	71397354	missense variant	C/T	snv			17
rs1057520063	GLI3	0.763	0.200	7	41964641	frameshift variant	-/A	delins			13
rs137854544	CTSA	0.827	0.320	20	45894040	missense variant	T/A	snv	3.6E-05	4.9E-05	10
rs875989777	CTSA	0.851	0.320	20	45894704	frameshift variant	AT/-	delins			9
rs1568359734	ASXL3	0.827	0.240	18	33738903	frameshift variant	A/-	delins			8
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs749621890	EXTL3	0.851	0.040	8	28717012	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		7
rs1057518887	SEPSECS	0.925	0.160	4	25156851	splice region variant	C/T	snv			7
rs137853883	FKBP10	0.882	0.120	17	41819307	frameshift variant	C/-;CC	delins			5
rs1565191262	FAM111B	1.000	0.080	11	59125559	frameshift variant	T/-	del			4