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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		12
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		10
rs80358638	BRCA2	0.776	0.280	13	32338277	stop gained	G/A;T	snv		5.6E-05	9
rs147021911	FANCM	0.763	0.320	14	45189123	stop gained	C/T	snv	1.2E-03	1.0E-03	9
rs147105770	ERCC4	0.776	0.280	16	13935697	missense variant	C/G;T	snv	1.2E-05; 6.4E-05		8
rs11571707	BRCA2	0.851	0.200	13	32356461	missense variant	T/C	snv	1.9E-02	8.5E-03	7
rs121917783	FANCC	0.851	0.200	9	95150056	stop gained	G/A	snv	5.6E-05	1.0E-04	6
rs80359065	BRCA2	0.827	0.240	13	32363389	missense variant	G/A;T	snv	7.9E-04		5
rs80359130	BRCA2	0.827	0.200	13	32376769	missense variant	C/A;G;T	snv	8.0E-06		5
rs80359183	BRCA2	0.882	0.120	13	32380096	stop gained	T/A;C	snv			4
rs397509403	ERCC4	0.851	0.200	16	13928149	missense variant	T/C	snv		7.0E-06	4
rs878853666	FANCA	0.882	0.200	16	89803299	missense variant	G/A	snv			4
rs765576835	FANCD2	0.882	0.200	3	10036306	missense variant	T/C	snv	4.0E-06		4
rs267606997	RAD51C	0.882	0.120	17	58709926	missense variant	G/A	snv	4.4E-05; 1.6E-05	2.1E-05	4
rs797045175	BRCA1	0.882	0.120	17	43095919	splice acceptor variant	ACAC/-	delins			3
rs200755477	EFCAB6-AS1 ; EFCAB6	0.925	0.120	22	43528870	missense variant	G/A	snv	1.2E-04	1.0E-04	3
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
rs367924414	AOPEP ; FANCC	0.925	0.120	9	95117321	missense variant	G/A	snv			2