DisGeNET - a database of gene-disease associations

List of associated variants

Myeloid Leukemia, Chronic, C0023473

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
rs1190999960	ZNRD2-AS1 ; ZNRD2 ; FAM89B	0.807	0.240	11	65571690	missense variant	G/A	snv			9
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
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
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		26
rs1483790387	TMED7-TICAM2 ; TMED7	0.925	0.120	5	115625762	missense variant	C/A	snv			2
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs6503691	STAT5B	0.827	0.200	17	42242072	intron variant	C/T	snv		0.26	5
rs1360131632	STAT5A	0.827	0.080	17	42301316	missense variant	C/T	snv	4.0E-06		6
rs4149117	SLCO1B3-SLCO1B7 ; SLCO1B3	0.763	0.360	12	20858546	missense variant	T/C;G	snv	0.81		15
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
rs762613037	SLC19A1 ; COL18A1	0.790	0.160	21	45512196	missense variant	A/G	snv	2.1E-05	7.0E-06	7
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
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
rs267607038	SETBP1	0.882	0.320	18	44951952	missense variant	T/C;G	snv	8.0E-06		4
rs1178702025	SETBP1	1.000	0.080	18	44951912	missense variant	G/A	snv			1
rs369488601	RSPH14 ; BCR	1.000	0.080	22	23181175	missense variant	G/A;C	snv	1.9E-05; 9.7E-05		1
rs775014154	RSPH14 ; BCR	1.000	0.080	22	23181637	missense variant	C/T	snv	5.8E-05	7.0E-05	1
rs1414109649	PRKAA1	1.000	0.080	5	40765164	missense variant	A/G	snv	4.0E-06		1
rs1208076129	POU5F1 ; TCF19	0.925	0.120	6	31164861	stop gained	G/A	snv	4.1E-06	2.1E-05	2
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157