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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs866082104	ABCB7	0.925	0.120	X	75053456	missense variant	C/T	snv			3
rs3746609	ASXL1			20	32434666	missense variant	G/A	snv	1.9E-02; 4.4E-06	7.4E-03	1
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
rs762622506	BCOR	0.925	0.080	X	40074459	missense variant	C/A;T	snv	6.1E-06		3
rs867679539	BCORL1	0.925	0.080	X	130013883	missense variant	A/C	snv			3
rs1178981336	C9orf43	1.000	0.040	9	113424228	frameshift variant	-/G	delins		7.0E-06	2
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			7
rs2267437	DESI1 ; XRCC6	0.724	0.320	22	41620695	intron variant	C/A;G	snv			19
rs1408538785	DNAH8	0.827	0.080	6	38761760	missense variant	A/G	snv		7.0E-06	6
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
rs377577594	DNMT3A	0.827	0.240	2	25234374	missense variant	G/A;C;T	snv	1.2E-04; 8.0E-06		7
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs755174338	ERCC2	0.732	0.360	19	45364096	missense variant	C/T	snv	2.6E-05	1.4E-05	15
rs1265794840	ERCC2	0.851	0.160	19	45365131	missense variant	C/T	snv		7.0E-06	6
rs1800067	ERCC4	0.716	0.320	16	13935176	missense variant	G/A	snv	5.6E-02	5.3E-02	17
rs2228526	ERCC6	0.752	0.200	10	49470671	missense variant	T/C	snv	0.22	0.19	13
rs2228529	ERCC6	0.925	0.080	10	49459059	missense variant	T/C	snv	0.22	0.19	4
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			7