DisGeNET - a database of gene-disease associations

List of associated variants

Immune thrombocytopenic purpura, C0398650

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
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs2430561	IFNG ; IFNG-AS1	0.590	0.760	12	68158742	intron variant	T/A	snv		0.36	50
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs1360780	FKBP5 ; LOC112267956	0.708	0.320	6	35639794	intron variant	T/A;C	snv			31
rs745738344	TNF	0.653	0.600	6	31576786	synonymous variant	G/A	snv	1.6E-05	1.4E-05	28
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs35761398	CNR2	0.701	0.520	1	23875429	missense variant	TT/CC	mnv			19
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs2424913	DNMT3B	0.708	0.440	20	32786453	intron variant	C/T	snv	0.56	0.53	18
rs2501432	CNR2	0.716	0.480	1	23875430	missense variant	T/C;G	snv	0.62		16
rs181206	IL27	0.742	0.440	16	28502082	missense variant	A/G	snv	0.28	0.24	16
rs1050501	FCGR2B	0.732	0.440	1	161674008	missense variant	T/C	snv	0.16	0.19	15
rs879761216	CNR2	0.732	0.480	1	23875429	frameshift variant	TT/C;T	delins			14
rs4077515	CARD9	0.763	0.360	9	136372044	missense variant	C/A;T	snv	4.0E-06; 0.41		11
rs762513613	FCGR2C	0.752	0.280	1	161591315	missense variant	A/G	snv	4.2E-06	7.4E-06	11