DisGeNET - a database of gene-disease associations

List of shared variants

Thrombocytopenia, C0040034

Disease: Colorectal Carcinoma

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
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs1800890	IL19	0.658	0.400	1	206776020	intron variant	A/T	snv		0.32	29
rs2306283	SLCO1B1	0.742	0.320	12	21176804	missense variant	A/G;T	snv	0.47		16
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs2297595	DPYD	0.776	0.320	1	97699535	missense variant	T/C	snv	8.5E-02	8.1E-02	10
rs2287886	CD209	0.776	0.280	19	7747650	upstream gene variant	A/G;T	snv		0.66	9
rs768288280	DPYD	1.000	0.080	1	97740403	missense variant	T/C	snv	4.0E-06		2