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
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			7
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1408538785	DNAH8	0.827	0.080	6	38761760	missense variant	A/G	snv		7.0E-06	6
rs775743629	PRKN			6	162262719	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		1
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs1470755915	RUNX1T1	0.776	0.240	8	92005229	missense variant	C/A	snv		7.0E-06	10
rs927698341	RUNX1T1	0.776	0.240	8	92005280	synonymous variant	C/A	snv	4.0E-06	2.8E-05	10
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs1178981336	C9orf43	1.000	0.040	9	113424228	frameshift variant	-/G	delins		7.0E-06	2
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
rs2228526	ERCC6	0.752	0.200	10	49470671	missense variant	T/C	snv	0.22	0.19	13
rs2308327	MGMT	0.790	0.280	10	129766906	missense variant	A/G	snv	9.4E-02	8.7E-02	10
rs2228529	ERCC6	0.925	0.080	10	49459059	missense variant	T/C	snv	0.22	0.19	4
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
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
rs1057519960	SF3B2	0.827	0.280	11	66063413	missense variant	A/G	snv			7
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
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79