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
rs2267437	DESI1 ; XRCC6	0.724	0.320	22	41620695	intron variant	C/A;G	snv			19
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
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
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			19
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
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			7
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs762622506	BCOR	0.925	0.080	X	40074459	missense variant	C/A;T	snv	6.1E-06		3
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs8179090	TIMP2	0.752	0.280	17	78925807	upstream gene variant	C/G	snv		1.6E-02	12
rs781517199	UBE2V1 ; TMEM189-UBE2V1			20	50082788	missense variant	C/G	snv	4.0E-06		1
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs12498609	TET2-AS1 ; TET2			4	105234028	missense variant	C/G;T	snv	6.3E-02; 4.0E-06		1
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs243865	MMP2	0.600	0.640	16	55477894	intron variant	C/T	snv		0.19	48
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45