DisGeNET - a database of gene-disease associations

List of associated variants

Leukemia, Myelocytic, Acute, C0023467

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs121913255	NRAS	0.667	0.400	1	114713907	missense variant	T/A;G	snv			26
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			19
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			12
rs6682925	C1orf141 ; IL23R	0.776	0.160	1	67165579	intron variant	C/T	snv		0.47	11
rs1052576	CASP9	0.807	0.200	1	15506048	missense variant	T/A;C	snv	0.53		9
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			9
rs55829688	SNORD77 ; SNORA103 ; ZBTB37 ; SNORD76 ; SNORD74 ; SNORD75 ; GAS5	0.827	0.200	1	173868168	5 prime UTR variant	T/C;G	snv			5
rs1498373	DDAH1	0.882	0.120	1	85324950	intron variant	G/A	snv		0.28	4
rs4971059	TRIM46	0.851	0.200	1	155176305	intron variant	G/A	snv		0.34	4
rs12133576	DR1	1.000	0.040	1	93350843	intron variant	A/G	snv		0.51	3
rs233112	DDAH1	0.925	0.040	1	85320068	3 prime UTR variant	T/C	snv		0.37	3
rs478093	PHGDH ; LOC105378937	1.000	0.040	1	119712503	5 prime UTR variant	A/G	snv		0.73	3