DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Autoimmune Chronic Hepatitis ×

Variants associated to the Gene: SH2B3 ×

Results per page

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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		61
rs739496	SH2B3 ; ATXN2	0.790	0.160	12	111449855	3 prime UTR variant	A/G	snv		0.27	3
rs11065904	SH2B3 ; ATXN2	0.882	0.080	12	111449163	3 prime UTR variant	T/A	snv		3.2E-02	1