DisGeNET - a database of gene-disease associations

List of associated variants

Overfolding of the superior helices, C1865304

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
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
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
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18