DisGeNET - a database of gene-disease associations

List of associated variants

HUNTINGTON DISEASE-LIKE 1, C1864112

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
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs74315407	PRNP	0.732	0.240	20	4699848	missense variant	G/A	snv	8.0E-06	2.1E-05	15
rs74315405	PRNP	0.827	0.160	20	4699813	missense variant	T/C	snv			6
rs193922906	PRNP	0.882	0.160	20	4699380	inframe insertion	TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	delins			4