DisGeNET - a database of gene-disease associations

List of associated variants

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B, C4310725

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
rs28940291	MFN2	0.776	0.080	1	11992660	missense variant	G/A	snv	4.0E-06		9
rs119103267	MFN2	0.790	0.160	1	12009641	missense variant	C/T	snv	2.5E-04	2.8E-04	7
rs119103268	MFN2	0.827	0.080	1	11992689	missense variant	C/T	snv			6
rs28940292	MFN2	0.851	0.080	1	12011510	missense variant	G/C	snv			4
rs387906990	MFN2	0.925	0.080	1	11998817	missense variant	T/C	snv	4.0E-06	4.2E-05	2
rs1478175861	MFN2	1.000	0.080	1	11989274	inframe deletion	AGA/-	delins		7.0E-06	1
rs1553141017	MFN2	1.000	0.080	1	11989322	missense variant	G/A	snv			1
rs1553142699	MFN2	1.000	0.080	1	11997313	missense variant	C/T	snv			1
rs387906991	MFN2	1.000	0.080	1	12002028	missense variant	C/G;T	snv	3.2E-05		1
rs757937208	MFN2	1.000	0.080	1	11996178	missense variant	G/A	snv	1.6E-05		1