DisGeNET - a database of gene-disease associations

List of associated variants

Lymphoma, Non-Hodgkin, Familial, C4721532

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
rs398122800	CASP10	1.000	0.120	2	201209189	frameshift variant	-/A	ins			1
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs80359306	BRCA2	0.827	0.280	13	32333284	frameshift variant	A/-;AA	delins			6
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs2239704	LTA ; LOC100287329	0.732	0.320	6	31572364	5 prime UTR variant	A/C	snv		0.64	17
rs1057519909	MAP2K1	0.790	0.240	15	66435116	missense variant	A/C	snv			7
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv			20
rs750664148	CASC11 ; MYC	0.851	0.200	8	127738434	missense variant	A/C;G	snv			5
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs5743836	TLR9	0.658	0.440	3	52226766	intron variant	A/G	snv		0.20	31
rs2305160	NPAS2 ; NPAS2-AS1	0.776	0.200	2	100974842	missense variant	A/G	snv	0.71	0.75	9
rs1023835002	B2M ; PATL2	0.763	0.280	15	44711547	start lost	A/G;T	snv			10
rs267601395	EZH2	0.925	0.160	7	148811636	missense variant	A/G;T	snv			7
rs1800890	IL19	0.658	0.400	1	206776020	intron variant	A/T	snv		0.32	29
rs2070673	LOC107984284 ; CYP2E1	0.827	0.160	10	133527063	non coding transcript exon variant	A/T	snv		0.67	5
rs1353759920	TP73	0.851	0.120	1	3707593	missense variant	C/A	snv		2.1E-05	4
rs4245739	MDM4	0.708	0.360	1	204549714	3 prime UTR variant	C/A;G	snv	0.77; 6.2E-06		21
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26