DisGeNET - a database of gene-disease associations

List of associated variants

Poor speech, C1848207

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
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs201431517	MTFMT	0.827	0.200	15	65021533	missense variant	G/A	snv	3.5E-04	5.7E-04	17
rs1554844486	KAT6B	0.827	0.160	10	75024984	frameshift variant	GGGT/-	del			10
rs80338700	PMM2	0.851	0.200	16	8806398	missense variant	C/G;T	snv	4.0E-06; 2.4E-05		7
rs1057518770	SNHG14 ; UBE3A	1.000		15	25354536	missense variant	C/T	snv			6
rs750331613	GRID2	0.882	0.040	4	93515346	missense variant	C/T	snv	4.8E-05	2.1E-05	5