DisGeNET - a database of gene-disease associations

List of shared variants

Thrombocytopenia, C0040034

Disease: Acute lymphocytic leukemia

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs724159947	ETV6	0.851	0.120	12	11869601	missense variant	C/T	snv			6
rs2274407	ABCC4	0.882	0.120	13	95206781	missense variant	C/A;G;T	snv	9.7E-02	0.10	4
rs786205155	ETV6	0.882	0.120	12	11884481	missense variant	T/C	snv			4
rs786205154	ETV6	1.000	0.120	12	11885921	coding sequence variant	GAACA/-	delins			3