DisGeNET - a database of gene-disease associations

List of associated variants

Flat face, C1853241

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
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			12
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins			11
rs1557036757	HUWE1	0.925	0.240	X	53647375	missense variant	G/A	snv			7
rs1554902217	TPP1	0.851	0.160	11	6618821	frameshift variant	A/-	del			7