DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Familial Mediterranean Fever ×

Variants associated to the Gene: MEFV ×

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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
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
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
rs224222	MEFV	0.724	0.440	16	3254463	missense variant	C/T	snv	0.24	0.21	15
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
rs11466018	MEFV	0.827	0.200	16	3254739	missense variant	A/G	snv	6.6E-03	2.2E-03	7
rs11466023	MEFV	0.827	0.320	16	3249586	missense variant	G/A;T	snv	1.5E-02; 4.0E-05		6
rs104895094	MEFV	0.851	0.320	16	3243403	missense variant	T/A;C	snv	8.0E-06; 5.2E-03		5
rs104895080	MEFV	0.882	0.160	16	3254380	missense variant	C/G;T	snv	6.3E-04		3
rs104895128	MEFV	0.882	0.160	16	3243593	missense variant	C/A;T	snv	3.7E-05		3
rs104895081	MEFV	0.925	0.080	16	3254268	missense variant	G/A	snv	1.6E-04	1.1E-04	2
rs104895083	MEFV	0.925	0.200	16	3247166	missense variant	G/C;T	snv	4.0E-05; 1.2E-05		2
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
rs11466024	MEFV	0.925	0.080	16	3249468	missense variant	C/A;T	snv	1.6E-05; 1.3E-02		2
rs61732874	MEFV	0.925	0.040	16	3243257	missense variant	C/A;T	snv	1.8E-03; 1.2E-05		2
rs767006697	MEFV	0.925	0.080	16	3254658	frameshift variant	C/-	delins			2
rs104895076	MEFV	1.000	0.040	16	3254625	missense variant	T/A;G	snv	7.7E-05; 4.3E-06		1
rs104895079	MEFV	1.000	0.040	16	3254567	missense variant	C/G	snv	4.4E-05	3.5E-05	1
rs104895085	MEFV	1.000	0.040	16	3243529	missense variant	C/T	snv	3.2E-05	7.0E-05	1
rs104895086	MEFV	1.000	0.040	16	3243520	missense variant	T/G	snv	4.0E-06		1
rs104895087	MEFV	1.000	0.040	16	3243463	missense variant	C/T	snv			1
rs104895088	MEFV	1.000	0.040	16	3243454	missense variant	C/T	snv	4.4E-05	1.4E-05	1