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
rs1057519941	PIK3CA	0.776	0.240	3	179203761	missense variant	T/C;G	snv			10
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs121909775	CASP10	1.000	0.120	2	201205929	stop gained	C/A;T	snv	4.0E-06		2
rs398122800	CASP10	1.000	0.120	2	201209189	frameshift variant	-/A	ins			1
rs28936699	CASP10	1.000	0.120	2	201209388	missense variant	C/T	snv			1
rs4245739	MDM4	0.708	0.360	1	204549714	3 prime UTR variant	C/A;G	snv	0.77; 6.2E-06		21
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1800890	IL19	0.658	0.400	1	206776020	intron variant	A/T	snv		0.32	29
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs2239704	LTA ; LOC100287329	0.732	0.320	6	31572364	5 prime UTR variant	A/C	snv		0.64	17
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs80359306	BRCA2	0.827	0.280	13	32333284	frameshift variant	A/-;AA	delins			6
rs1353759920	TP73	0.851	0.120	1	3707593	missense variant	C/A	snv		2.1E-05	4
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs13706	CDC6	0.776	0.200	17	40300899	missense variant	G/A;C	snv	0.15; 8.0E-06		11
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs1023835002	B2M ; PATL2	0.763	0.280	15	44711547	start lost	A/G;T	snv			10