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
rs1239681664	ABCA1	0.716	0.320	9	104818690	synonymous variant	A/G	snv		7.0E-06	15
rs3092856	ATM	0.882	0.120	11	108289005	missense variant	C/T	snv	1.2E-02	2.2E-02	3
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs755796482	ATXN2 ; SH2B3	1.000	0.080	12	111447512	missense variant	G/A	snv	4.1E-06	8.1E-06	1
rs111340708	ATXN2 ; SH2B3	0.925	0.080	12	111447548	intron variant	TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG	delins		0.52	2
rs918140013	ATXN2 ; SH2B3	0.925	0.080	12	111447663	missense variant	G/A	snv		7.0E-06	2
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs1250394819	LOC101927100 ; TMED7-TICAM2 ; TMED7	0.807	0.240	5	115616325	missense variant	C/T	snv	4.0E-06		9
rs1483790387	TMED7-TICAM2 ; TMED7	0.925	0.120	5	115625762	missense variant	C/A	snv			2
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1060500091	GATA2	0.882	0.120	3	128481887	missense variant	A/C	snv			4
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs1314838108	ABL1	0.925	0.160	9	130854977	missense variant	G/A	snv		7.0E-06	2
rs387906517	ABL1	0.827	0.120	9	130862919	missense variant	G/A	snv			6
rs121913456	ABL1	1.000	0.080	9	130862943	missense variant	A/G	snv			1
rs34549764	ABL1	1.000	0.080	9	130862953	missense variant	A/G	snv	2.6E-03	2.5E-03	1
rs121913455	ABL1	1.000	0.080	9	130862955	missense variant	C/G	snv			1
rs121913453	ABL1	1.000	0.080	9	130862962	missense variant	G/A	snv			1
rs121913458	ABL1	1.000	0.080	9	130862969	missense variant	G/C;T	snv			1
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			5
rs121913460	ABL1	0.925	0.080	9	130862971	missense variant	A/T	snv			2
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs121913449	ABL1	1.000	0.080	9	130862977	missense variant	A/T	snv			1