DisGeNET - a database of gene-disease associations

List of associated variants

Familial (FPAH), C1611743

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
rs1318358361	ARID1B	0.724	0.240	6	156778678	missense variant	C/G	snv		2.1E-05	13
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs147120792	ARL11	0.851	0.200	13	49630839	missense variant	C/A;T	snv	3.0E-02		6
rs165599	ARVCF ; COMT	0.677	0.280	22	19969258	3 prime UTR variant	G/A	snv		0.56	27
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs769142993	ATM ; C11orf65	0.851	0.280	11	108331498	missense variant	G/C;T	snv	2.4E-05	7.0E-06	7
rs1064797245	ATP1A3	0.776	0.280	19	41970540	missense variant	G/A	snv			12
rs782175860	ATP1A3	0.925		19	41975776	missense variant	C/T	snv			2
rs778581081	ATP2A3	0.925		17	3937577	missense variant	C/T	snv	4.0E-06		2
rs398122820	B2M	0.790	0.240	15	44715641	missense variant	G/A	snv			8
rs28997576	BARD1	0.776	0.160	2	214752454	missense variant	C/G;T	snv	1.5E-02		11
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1202752581	BECN1	0.925	0.040	17	42820818	missense variant	C/T	snv		7.0E-06	2
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs748876625	BRCA1	0.807	0.160	17	43104122	missense variant	C/A;G	snv	1.2E-05		10
rs80357033	BRCA1	0.925	0.200	17	43106467	missense variant	A/C;G	snv			2
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs11871753	BRIP1	0.851	0.120	17	61779284	intron variant	A/G	snv		0.75	4
rs16945628	BRIP1	0.851	0.120	17	61789868	intron variant	T/C	snv		0.60	4
rs150599989	C5AR2	0.827	0.320	19	47341767	missense variant	G/A;C;T	snv	4.0E-06; 9.6E-05		5
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25