DisGeNET - a database of gene-disease associations

List of shared variants

Classical galactosemia, C0268151

Disease: UDPglucose 4-epimerase deficiency disease

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
rs121908047	GALE	0.851	0.120	1	23798188	missense variant	C/T	snv	8.0E-06	1.4E-05	4
rs137853859	GALE	0.882	0.120	1	23797718	missense variant	G/A;T	snv	7.2E-05; 8.0E-06		3
rs137853860	GALE	0.882	0.120	1	23796777	missense variant	G/A	snv	1.6E-05	7.0E-06	3
rs137853861	GALE	0.882	0.120	1	23796234	missense variant	C/T	snv	2.0E-05		3
rs28940882	GALE	0.882	0.120	1	23798199	missense variant	C/T	snv			3
rs28940884	GALE	0.882	0.120	1	23796722	missense variant	T/C	snv	1.4E-03	5.8E-03	3
rs3180383	GALE	0.882	0.120	1	23796202	missense variant	G/A;T	snv			3
rs368637540	LYPLA2 ; GALE	0.882	0.120	1	23795992	missense variant	C/G;T	snv	1.2E-05		3
rs28940885	GALE	0.925	0.120	1	23796183	missense variant	C/T	snv	3.5E-04	1.2E-03	2