DisGeNET - a database of gene-disease associations

List of associated variants

FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder), C3469521

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
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		7
rs147105770	ERCC4	0.776	0.280	16	13935697	missense variant	C/G;T	snv	1.2E-05; 6.4E-05		5
rs147021911	FANCM	0.763	0.320	14	45189123	stop gained	C/T	snv	1.2E-03	1.0E-03	5
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		4
rs80358638	BRCA2	0.776	0.280	13	32338277	stop gained	G/A;T	snv		5.6E-05	4
rs797045175	BRCA1	0.882	0.120	17	43095919	splice acceptor variant	ACAC/-	delins			3
rs121917783	FANCC	0.851	0.200	9	95150056	stop gained	G/A	snv	5.6E-05	1.0E-04	3
rs1232171121	FANCA	0.925	0.120	16	89814519	splice donor variant	C/A;T	snv			2
rs1291524243	FANCA	0.925	0.120	16	89799203	stop gained	G/A;C	snv	4.0E-06		2
rs1302083447	FANCA	0.925	0.120	16	89764930	missense variant	T/G	snv		7.0E-06	2
rs148100796	FANCA	0.925	0.120	16	89799197	stop gained	C/A	snv	6.0E-05	5.6E-05	2
rs148473140	FANCA	0.925	0.120	16	89791459	missense variant	G/A	snv	8.0E-06	2.1E-05	2
rs149277003	FANCA	0.925	0.120	16	89746890	missense variant	T/C	snv	2.5E-05	5.6E-05	2
rs149797103	FANCA	0.925	0.120	16	89744961	splice region variant	G/A	snv	9.7E-05	7.0E-05	2
rs1555540076	FANCA	0.925	0.120	16	89752223	splice acceptor variant	C/G	snv			2
rs1555548512	FANCA	0.925	0.120	16	89771722	stop gained	G/A	snv			2
rs397507552	FANCA	0.925	0.120	16	89792034	frameshift variant	CAAC/-	delins	7.2E-05	5.6E-05	2
rs555449842	FANCA	0.925	0.120	16	89775816	splice acceptor variant	C/T	snv	1.6E-05	4.9E-05	2
rs574034197	FANCA	0.925	0.120	16	89746848	missense variant	T/C;G	snv	8.7E-05		2
rs587783028	FANCA	0.925	0.120	16	89752137	splice donor variant	C/A;T	snv	4.0E-06		2
rs745568821	FANCA	0.925	0.120	16	89761961	stop gained	G/C	snv	4.0E-06; 8.0E-06	7.0E-06	2
rs747851434	FANCA	0.925	0.120	16	89745026	frameshift variant	-/C	delins	1.2E-05	2.8E-05	2
rs752160950	FANCA	0.925	0.120	16	89767185	stop gained	G/A;C	snv	1.2E-05; 4.0E-06		2
rs753063086	FANCA	0.925	0.120	16	89749806	missense variant	G/A;T	snv	2.0E-05; 1.2E-05		2
rs755546887	FANCA	0.925	0.120	16	89761950	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		2