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
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	54
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		46
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs6277	DRD2	0.689	0.480	11	113412737	synonymous variant	G/A	snv	0.41	0.38	36
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29
rs165599	ARVCF ; COMT	0.677	0.280	22	19969258	3 prime UTR variant	G/A	snv		0.56	27
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		27
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			25