DisGeNET - a database of gene-disease associations

List of associated variants

Widely spaced teeth, C1844813

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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	19
rs1565706229	EED ; MIR6755	0.851	0.120	11	86277110	missense variant	T/C	snv			18
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs139455627	TSPEAR	0.851	0.240	21	44531087	stop gained	G/A	snv	3.2E-04	2.7E-04	14
rs1569151872	TSPEAR-AS1 ; TSPEAR	0.851	0.240	21	44509225	frameshift variant	GAC/AA	delins			14