DisGeNET - a database of gene-disease associations

List of associated variants

Poor eye contact, C1445953

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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1566658823	GCH1	1.000	0.120	14	54844138	missense variant	A/G	snv			4
rs876661308	MEF2C	1.000		5	88823780	missense variant	T/A	snv			4
rs1057518787	GPR143	0.925	0.200	X	9765782	frameshift variant	CAGCAGAAGGTCCCTAGGCGCGGGG/-	delins			3