DisGeNET - a database of gene-disease associations

List of associated variants

Familial Mediterranean Fever, Autosomal Dominant, C1851347

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
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs28940580	MEFV	0.742	0.560	16	3243447	missense variant	C/A;G;T	snv	1.0E-04; 8.0E-06		17
rs28940578	MEFV	0.716	0.400	16	3243405	missense variant	C/T	snv	1.4E-04	6.3E-05	16
rs28940579	MEFV	0.732	0.440	16	3243310	missense variant	A/G;T	snv	2.2E-03; 4.0E-06		13
rs104895105	MEFV	0.851	0.120	16	3247171	missense variant	G/A	snv			7
rs104895128	MEFV	0.882	0.160	16	3243593	missense variant	C/A;T	snv	3.7E-05		3
rs104895091	MEFV	0.925	0.040	16	3243404	inframe deletion	CAT/-	delins			2
rs104895097	MEFV	0.925	0.040	16	3243205	missense variant	C/T	snv	2.0E-04	1.1E-04	2
rs61732874	MEFV	0.925	0.040	16	3243257	missense variant	C/A;T	snv	1.8E-03; 1.2E-05		2