DisGeNET - a database of gene-disease associations

List of associated variants

FANCONI ANEMIA, COMPLEMENTATION GROUP D1, C1838457

Source: CLINVAR ×

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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
rs81002899	BRCA2	0.851	0.280	13	32326615	splice donor variant	T/A;C;G	snv			5
rs80358695	BRCA2	0.882	0.280	13	32339003	stop gained	G/C;T	snv	4.0E-06		4
rs80359773	BRCA2	0.882	0.280	13	32398184	frameshift variant	-/A	delins			4
rs81002897	BRCA2	0.882	0.280	13	32326614	splice donor variant	G/A;C	snv			4
rs80359013	BRCA2	0.882	0.280	13	32362595	stop gained	G/A;C	snv	8.0E-06		3
rs1555286294	BRCA2	1.000	0.120	13	32356571	frameshift variant	G/-	del			2
rs80358979	BRCA2	1.000	0.120	13	32356521	missense variant	T/C	snv			2
rs80359070	BRCA2	0.925	0.120	13	32363421	stop gained	T/A	snv			2
rs886038169	BRCA2	0.925	0.120	13	32356455	frameshift variant	-/TA	delins			2
rs1566232471	BRCA2	1.000	0.120	13	32339808	stop gained	C/A	snv			1
rs1566260827	BRCA2	1.000	0.120	13	32398206	frameshift variant	A/-	del			1
rs80359130	BRCA2	0.827	0.200	13	32376769	missense variant	C/A;G;T	snv	8.0E-06		1