DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Anemia ×

Variants associated to the Gene: ITPA ×

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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
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		2
rs7270101	ITPA	0.776	0.200	20	3213247	intron variant	A/C	snv	8.7E-02	9.7E-02	1