DisGeNET - a database of gene-disease associations

List of associated variants

Multiple Myeloma, C0026764

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
rs1052501	ULK4	0.925	0.160	3	41883906	missense variant	C/G;T	snv	0.80		2
rs2272007	ULK4	1.000	0.160	3	41954644	missense variant	T/C	snv	0.79	0.67	2
rs1716698	ULK4	1.000	0.160	3	41915974	splice region variant	T/A;G	snv	1.3E-05; 0.79		1
rs1716975	ULK4	1.000	0.160	3	41918514	missense variant	T/C	snv	0.79	0.67	1
rs1717003	ULK4	1.000	0.160	3	41895508	intron variant	C/T	snv	0.77	0.68	1
rs3132535	CCHCR1	1.000	0.160	6	31148749	intron variant	A/G;T	snv	0.69		1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs4439007	DNAH11	1.000	0.160	7	21884249	intron variant	C/G	snv	0.53	0.47	1
rs2235544	DIO1	0.742	0.240	1	53909897	intron variant	C/A;T	snv	0.53; 4.0E-06		14
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1920119	LRRIQ4	1.000	0.160	3	169822609	synonymous variant	T/C	snv	0.50	0.50	1
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs1049623	DDR1	0.925	0.200	6	30897052	synonymous variant	T/C	snv	0.47	0.43	2
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs12717	TBP ; PSMB1	0.925	0.160	6	170553212	missense variant	G/C	snv	0.42	0.38	2
rs6465657	LMTK2	0.807	0.280	7	98187015	intron variant	C/T	snv	0.41	0.37	7
rs12537531	DNAH11	1.000	0.160	7	21892426	missense variant	C/G;T	snv	1.8E-04; 0.39		1
rs2302777	MED24	0.925	0.200	17	40023239	synonymous variant	A/G	snv	0.39	0.30	2
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57