DisGeNET - a database of gene-disease associations

List of associated variants

PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder), C1856974

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
rs113994152	TSEN54	0.790	0.160	17	75522000	missense variant	G/T	snv	9.0E-04	9.0E-04	11
rs113994151	CASKIN2 ; TSEN54	0.925	0.080	17	75517064	missense variant	T/C	snv		7.0E-06	2
rs1012275384	TSEN54	0.925	0.080	17	75522019	frameshift variant	C/-	delins	1.4E-05	7.0E-06	2
rs113994153	TSEN54	0.925	0.080	17	75521817	stop gained	C/T	snv			2
rs113994154	TSEN54	0.925	0.080	17	75522108	stop gained	C/T	snv			2
rs886037629	TSEN54	1.000	0.080	17	75522251	frameshift variant	AGAGGAGCCAGCGC/-	delins			1