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
rs10165970	NPAS2	0.708	0.320	2	100840527	intron variant	G/A	snv		0.16	18
rs17024869	NPAS2	0.708	0.320	2	100843581	intron variant	T/C	snv		8.3E-02	18
rs895520	NPAS2	0.689	0.320	2	100961475	intron variant	G/A	snv		0.35	23
rs7581886	NPAS2	0.708	0.320	2	100964784	intron variant	C/T	snv		0.92	18
rs2305160	NPAS2 ; NPAS2-AS1	0.776	0.200	2	100974842	missense variant	A/G	snv	0.71	0.75	9
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			19
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs16917496	KMT5A	0.689	0.360	12	123409283	3 prime UTR variant	C/G;T	snv			21
rs1057519918	CASC11 ; MYC	0.851	0.200	8	127738390	missense variant	C/T	snv			5
rs750664148	CASC11 ; MYC	0.851	0.200	8	127738434	missense variant	A/C;G	snv			5
rs756091827	MYC ; CASC11	0.851	0.200	8	127738435	missense variant	C/G;T	snv			6
rs2167270	LEP	0.724	0.280	7	128241296	5 prime UTR variant	G/A	snv		0.37	17
rs2070673	LOC107984284 ; CYP2E1	0.827	0.160	10	133527063	non coding transcript exon variant	A/T	snv		0.67	5
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			24
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121913357	BRAF	0.742	0.320	7	140781603	stop gained	C/A;G;T	snv			12
rs75002266	ORC4	0.827	0.160	2	147939241	missense variant	G/A	snv	3.2E-03	3.0E-03	6
rs267601394	EZH2	0.807	0.200	7	148811635	missense variant	T/A;G	snv			8
rs267601395	EZH2	0.925	0.160	7	148811636	missense variant	A/G;T	snv			7
rs1057519894	EZH2	0.925	0.160	7	148811650	missense variant	T/A;G	snv			2
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs1057519942	PIK3CA	0.724	0.320	3	179203760	missense variant	G/A	snv			16