DisGeNET - a database of gene-disease associations

List of associated variants

Neurogenic Urinary Bladder, C0005697

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
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs1555883505	EEF1A2	0.827	0.160	20	63490712	missense variant	G/A	snv			10
rs1057519437	EBF3	0.851	0.240	10	129957300	missense variant	C/T	snv			6