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
rs193303018	ND2 ; ND1 ; TRNL1	1.000	0.200	MT	3242	non coding transcript exon variant	G/A	snv			2
rs4898	TIMP1 ; SYN1 ; MIR4769	0.672	0.520	X	47585586	synonymous variant	T/C	snv	0.46	0.46	25
rs387906717	WAS	0.827	0.120	X	48688403	missense variant	T/C	snv			6
rs762622506	BCOR	0.925	0.080	X	40074459	missense variant	C/A;T	snv	6.1E-06		3
rs866082104	ABCB7	0.925	0.120	X	75053456	missense variant	C/T	snv			3
rs867679539	BCORL1	0.925	0.080	X	130013883	missense variant	A/C	snv			3
rs893810317	GATA1			X	48793910	missense variant	C/T	snv			1
rs2267437	DESI1 ; XRCC6	0.724	0.320	22	41620695	intron variant	C/A;G	snv			19
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs371246226	U2AF1	0.827	0.160	21	43094667	missense variant	T/C;G	snv	2.4E-05; 2.4E-05		8
rs1464681682	LOC102724701 ; U2AF1L5 ; LOC102724843	0.882	0.160	21	6486334	missense variant	T/C;G	snv			6
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs3746609	ASXL1			20	32434666	missense variant	G/A	snv	1.9E-02; 4.4E-06	7.4E-03	1
rs781517199	UBE2V1 ; TMEM189-UBE2V1			20	50082788	missense variant	C/G	snv	4.0E-06		1
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
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
rs267607040	SETBP1	0.851	0.320	18	44951948	missense variant	G/A	snv			5
rs267607042	SETBP1	0.851	0.320	18	44951942	missense variant	G/A;C	snv			5
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57