DisGeNET - a database of gene-disease associations

List of associated variants

Septicemia, C0036690

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
rs2249825	HMGB1	0.695	0.440	13	30463766	5 prime UTR variant	G/A;C;T	snv			23
rs1045411	HMGB1	0.708	0.360	13	30459095	3 prime UTR variant	C/T	snv		0.20	18
rs1360485	HMGB1	0.742	0.320	13	30457747	3 prime UTR variant	C/T	snv		0.58	16
rs17446614	FOXO1	0.851	0.240	13	40565740	intron variant	G/A	snv		0.16	5
rs2721068	FOXO1	0.882	0.160	13	40565575	intron variant	T/C	snv		0.38	4
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs10506481	MIR6502 ; IRAK3	0.882	0.080	12	66250331	3 prime UTR variant	T/C	snv		9.0E-02	3
rs8177374	TIRAP	0.672	0.520	11	126292948	missense variant	C/T	snv	0.12	0.11	22
rs368287711	IL10RA	0.851	0.120	11	117989554	missense variant	C/A;T	snv	2.0E-05; 2.4E-05		4
rs5743867	TOLLIP	0.882	0.120	11	1307121	intron variant	G/A;C	snv			3
rs7119750	RELA	0.882	0.120	11	65655120	3 prime UTR variant	C/G;T	snv			3
rs11216153	APOA1-AS	0.925	0.080	11	116834384	upstream gene variant	G/T	snv		0.16	2
rs1419560997	IL10RA	0.925	0.080	11	117993410	splice region variant	G/A	snv	8.0E-06	7.0E-06	2
rs4755453	TRAF6 ; RAG1	0.925	0.080	11	36509094	intron variant	C/A;G;T	snv			2
rs497116	CASP12	0.925	0.080	11	104892390	stop lost	A/G	snv		4.3E-02	2
rs595209	TIRAP	0.925	0.080	11	126292326	intron variant	A/C;G	snv			2
rs8177375	TIRAP	0.925	0.080	11	126293169	3 prime UTR variant	A/G	snv	0.12	0.13	2
rs4919510	SEMA4G ; MIR608 ; MRPL43	0.641	0.520	10	100975021	mature miRNA variant	C/G	snv	0.27	0.27	32
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs2297630	CXCL12	0.827	0.160	10	44376100	intron variant	G/A;T	snv		0.21	6
rs2839693	CXCL12	0.882	0.120	10	44379119	intron variant	T/A;C	snv			3
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187