DisGeNET - a database of gene-disease associations

List of associated variants

MYELODYSPLASTIC SYNDROME, C3463824

Source: UNIPROT ×

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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
rs267607040	SETBP1	0.851	0.320	18	44951948	missense variant	G/A	snv			4
rs267607042	SETBP1	0.851	0.320	18	44951942	missense variant	G/A;C	snv			4
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		3
rs387906631	GATA2	0.882	0.080	3	128481901	missense variant	G/A	snv			2
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			2
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			2
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			2
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		2
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			2
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		2
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		2
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			1
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		1
rs377577594	DNMT3A	0.827	0.240	2	25234374	missense variant	G/A;C;T	snv	1.2E-04; 8.0E-06		1
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			1
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		1
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		1
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		1
rs267606870	IDH2	0.763	0.280	15	90088703	missense variant	G/A;C	snv			1
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	1
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			1
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			1
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		1
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		1
rs371246226	U2AF1	0.827	0.160	21	43094667	missense variant	T/C;G	snv	2.4E-05; 2.4E-05		1