DisGeNET - a database of gene-disease associations

List of associated variants

Adult-Onset Still Disease, C0085253

Source: ALL

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
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs28940578	MEFV	0.716	0.400	16	3243405	missense variant	C/T	snv	1.4E-04	6.3E-05	16
rs12218	SAA1	0.763	0.280	11	18269774	synonymous variant	T/C	snv	0.42	0.36	11
rs11466023	MEFV	0.827	0.320	16	3249586	missense variant	G/A;T	snv	1.5E-02; 4.0E-05		6
rs104895128	MEFV	0.882	0.160	16	3243593	missense variant	C/A;T	snv	3.7E-05		3