DisGeNET - a database of gene-disease associations

List of associated variants

Thrombocytopenia, C0040034

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
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs4969170	LOC101928674	0.752	0.440	17	78364457	intron variant	A/C;G	snv		0.54	11
rs1800890	IL19	0.658	0.400	1	206776020	intron variant	A/T	snv		0.32	29
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs483352867	STIM1	0.827	0.400	11	4074620	missense variant	C/T	snv			8
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs4149117	SLCO1B3-SLCO1B7 ; SLCO1B3	0.763	0.360	12	20858546	missense variant	T/C;G	snv	0.81		15
rs80338701	PMM2	0.776	0.360	16	8811088	stop gained	C/A;T	snv	4.4E-05; 5.4E-06		14
rs1556620697	SH2D1A ; STAG2	0.827	0.360	X	124365758	splice region variant	C/G	snv			10
rs104894419	LIG4	0.807	0.360	13	108208829	stop gained	G/A	snv	9.9E-05	7.0E-05	8
rs2306283	SLCO1B1	0.742	0.320	12	21176804	missense variant	A/G;T	snv	0.47		16
rs190521996	PMM2	0.790	0.320	16	8811660	missense variant	T/C	snv	2.9E-04	4.1E-04	12
rs2297595	DPYD	0.776	0.320	1	97699535	missense variant	T/C	snv	8.5E-02	8.1E-02	10
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs2287886	CD209	0.776	0.280	19	7747650	upstream gene variant	A/G;T	snv		0.66	9
rs397518423	PIK3CD	0.790	0.240	1	9726972	missense variant	G/A	snv			10
rs1559810905	IFIH1	0.827	0.240	2	162273810	missense variant	T/A	snv			9
rs735239	CD209	0.851	0.240	19	7748382	upstream gene variant	A/G	snv		0.26	5