DisGeNET - a database of gene-disease associations

List of associated variants

FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder), C3469521

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
rs267606997	RAD51C	0.882	0.120	17	58709926	missense variant	G/A	snv	4.4E-05; 1.6E-05	2.1E-05	4
rs80359183	BRCA2	0.882	0.120	13	32380096	stop gained	T/A;C	snv			4
rs104886458	FANCC ; AOPEP	0.882	0.120	9	95101723	missense variant	A/G	snv	1.2E-05	2.1E-05	3
rs121434426	FANCG	0.882	0.120	9	35076442	stop gained	G/A	snv	4.0E-06		3
rs1555524842	RFWD3	0.882	0.120	16	74628505	missense variant	A/T	snv			3
rs200755477	EFCAB6-AS1 ; EFCAB6	0.925	0.120	22	43528870	missense variant	G/A	snv	1.2E-04	1.0E-04	3
rs797045175	BRCA1	0.882	0.120	17	43095919	splice acceptor variant	ACAC/-	delins			3
rs1055368753	BRCA1	0.925	0.120	17	43092010	missense variant	G/A	snv			2
rs1057516430	FANCA	0.925	0.120	16	89811060	stop gained	G/A	snv			2
rs1060501887	FANCA ; ZNF276	0.925	0.120	16	89738881	splice donor variant	C/T	snv			2
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
rs139235751	FANCA	0.925	0.120	16	89775768	missense variant	C/G;T	snv	2.4E-03; 2.0E-05		2
rs1432988639	ZNF276 ; FANCA	0.925	0.120	16	89740803	splice donor variant	C/A;G;T	snv	1.2E-05		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
rs1564719070	FANCC	0.925	0.120	9	95171081	frameshift variant	C/-	delins			2
rs17233497	FANCA	0.925	0.120	16	89748744	missense variant	G/A	snv	5.1E-02	5.2E-02	2
rs367924414	AOPEP ; FANCC	0.925	0.120	9	95117321	missense variant	G/A	snv			2
rs397507552	FANCA	0.925	0.120	16	89792034	frameshift variant	CAAC/-	delins	7.2E-05	5.6E-05	2