DisGeNET - a database of gene-disease associations

List of shared variants

Intellectual Disability, C3714756

Disease: Encephalopathies

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs796052676	KCNQ3	0.807	0.200	8	132180246	missense variant	G/A	snv			10
rs1057516085	KCNQ2	0.827	0.080	20	63444747	missense variant	C/T	snv			8
rs118203933	CA2	0.925	0.360	8	85473779	missense variant	C/T	snv	8.0E-06		6
rs1162306056	KCNQ3	0.882	0.080	8	132174294	missense variant	C/T	snv			5