DisGeNET - a database of gene-disease associations

List of associated variants

MYELODYSPLASTIC SYNDROME, C3463824

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
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs4135113	TDG	0.925	0.080	12	103982915	missense variant	G/A;C;T	snv	4.7E-02		5
rs12498609	TET2-AS1 ; TET2			4	105234028	missense variant	C/G;T	snv	6.3E-02; 4.0E-06		1
rs2454206	TET2-AS1 ; TET2	0.851	0.160	4	105275794	missense variant	A/G;T	snv	0.30; 6.4E-06		6
rs1805388	LIG4	0.790	0.120	13	108211243	missense variant	G/A	snv	0.18	0.16	11
rs587779821	ATM	1.000	0.080	11	108259059	missense variant	A/G;T	snv			2
rs228593	ATM			11	108270407	intron variant	G/A	snv		0.27	1
rs397507548	PTPN11	0.851	0.160	12	112489093	missense variant	A/C	snv			6
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1178981336	C9orf43	1.000	0.040	9	113424228	frameshift variant	-/G	delins		7.0E-06	2
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
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs387906631	GATA2	0.882	0.080	3	128481901	missense variant	G/A	snv			6
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs2308327	MGMT	0.790	0.280	10	129766906	missense variant	A/G	snv	9.4E-02	8.7E-02	10
rs867679539	BCORL1	0.925	0.080	X	130013883	missense variant	A/C	snv			3
rs1800067	ERCC4	0.716	0.320	16	13935176	missense variant	G/A	snv	5.6E-02	5.3E-02	17
rs775743629	PRKN			6	162262719	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		1
rs751689316	MECOM	0.925	0.080	3	169131510	missense variant	C/T	snv	1.2E-05		4
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			7
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30