DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Multiple Myeloma ×

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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
rs1242982981	CLEC12A	0.851	0.160	12	9984989	missense variant	C/T	snv			4
rs4148388	ABCC2	1.000	0.160	10	99790008	intron variant	G/A;C	snv			1
rs6465657	LMTK2	0.807	0.280	7	98187015	intron variant	C/T	snv	0.41	0.37	4
rs3777189	ELL2	1.000	0.160	5	95917404	intron variant	C/G	snv		0.34	1
rs3815768	ELL2	1.000	0.160	5	95900755	missense variant	C/T	snv	0.27	0.29	1
rs1934951	CYP2C8	0.925	0.160	10	95038791	intron variant	C/T	snv		0.24	3
rs1428	MIR17HG	0.882	0.200	13	91354516	non coding transcript exon variant	C/A;T	snv			3
rs7336610	MIR17HG	0.827	0.240	13	91352883	intron variant	C/T	snv		0.47	5
rs4284505	MIR19A ; MIR17 ; MIR17HG ; MIR20A ; MIR18A ; MIR19B1	1.000	0.160	13	91349218	non coding transcript exon variant	A/G	snv		0.51	1
rs267606870	IDH2	0.763	0.280	15	90088703	missense variant	G/A;C	snv			6
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		15
rs2231137	ABCG2	0.752	0.400	4	88139962	missense variant	C/T	snv	0.11	7.4E-02	12
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		54
rs4240803	SLC7A5 ; LOC107987237	0.851	0.240	16	87855597	intron variant	G/A;C;T	snv			4
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs1289543302	ABCB1	0.763	0.440	7	87536472	missense variant	C/T	snv			12
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs201478192	KIDINS220	0.790	0.200	2	8731667	missense variant	C/A	snv	2.4E-04	2.6E-04	12
rs1450703683	ANOS1	1.000	0.160	X	8533018	missense variant	T/C	snv		1.9E-05	1
rs4693608	HPSE	0.827	0.200	4	83320204	intron variant	G/A;C	snv			6
rs6535455	HPSE	0.851	0.160	4	83310951	intron variant	T/A;C	snv			4
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			213