DisGeNET - a database of gene-disease associations

List of associated variants

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, C1843851

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
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs113994098	POLG	0.742	0.320	15	89321792	missense variant	C/T	snv	1.5E-04	2.7E-04	12
rs121918054	POLG	0.807	0.240	15	89323460	missense variant	C/G;T	snv	6.9E-04; 4.0E-06		8
rs121918044	POLG	0.807	0.240	15	89329055	missense variant	A/C	snv	5.7E-05	3.5E-05	6
rs144500145	POLG	0.807	0.240	15	89321780	missense variant	G/A	snv	4.8E-05	6.3E-05	6
rs201732356	POLG	0.807	0.240	15	89318737	missense variant	G/A;C	snv	8.0E-06		6
rs121918046	POLG	0.925	0.160	15	89325520	missense variant	G/A	snv		1.4E-05	4
rs121918048	POLG	0.882	0.200	15	89320953	missense variant	G/A	snv			3
rs769827124	POLG	0.882	0.200	15	89322749	missense variant	G/A	snv	2.4E-05	1.4E-05	3
rs61752783	POLG ; MIR6766	0.882	0.200	15	89326947	missense variant	C/A;G	snv	4.8E-03; 2.0E-05		3
rs121918049	POLG	0.925	0.200	15	89319053	missense variant	C/A;G;T	snv	3.2E-05; 2.0E-05; 4.0E-06		2
rs375305567	POLG	0.925	0.200	15	89325519	missense variant	C/T	snv	3.2E-05	7.7E-05	2
rs121918052	MIR6766 ; POLG	1.000	0.160	15	89327006	missense variant	C/G;T	snv	1.3E-04; 8.0E-06		1
rs387906989	PRICKLE2 ; PRICKLE2-AS1	1.000	0.160	3	64099773	missense variant	C/A	snv	1.2E-05	4.2E-05	1