DisGeNET - a database of gene-disease associations

List of associated variants

Apraxias, C0003635

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
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs1561904557	CSF1R	0.851	0.160	5	150056050	missense variant	GGAT/TGCC	mnv			9
rs886041262	KCNQ2	0.851	0.080	20	63444720	missense variant	C/G;T	snv			6
rs1555545033	THRA	0.807	0.160	17	40088306	missense variant	C/T	snv			1