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
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			19
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs559063155	SF3B1	0.732	0.280	2	197402110	stop gained	T/A;C;G	snv	9.0E-05		14
rs377577594	DNMT3A	0.827	0.240	2	25234374	missense variant	G/A;C;T	snv	1.2E-04; 8.0E-06		7
rs3835	XRCC5	0.882	0.120	2	216201914	intron variant	G/A	snv		0.21	4
rs142883642	IDH1	1.000	0.040	2	208248486	missense variant	T/C	snv	3.6E-05	2.1E-05	2
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs387906631	GATA2	0.882	0.080	3	128481901	missense variant	G/A	snv			6
rs751689316	MECOM	0.925	0.080	3	169131510	missense variant	C/T	snv	1.2E-05		4
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs2454206	TET2-AS1 ; TET2	0.851	0.160	4	105275794	missense variant	A/G;T	snv	0.30; 6.4E-06		6
rs12498609	TET2-AS1 ; TET2			4	105234028	missense variant	C/G;T	snv	6.3E-02; 4.0E-06		1
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8