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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
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
rs1360780	FKBP5 ; LOC112267956	0.708	0.320	6	35639794	intron variant	T/A;C	snv			31
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
rs2501432	CNR2	0.716	0.480	1	23875430	missense variant	T/C;G	snv	0.62		16
rs879761216	CNR2	0.732	0.480	1	23875429	frameshift variant	TT/C;T	delins			14
rs200215055	FCGR3B	0.742	0.400	1	161626196	missense variant	C/A;G;T	snv	1.5E-03; 1.2E-05; 4.0E-06		11
rs4077515	CARD9	0.763	0.360	9	136372044	missense variant	C/A;T	snv	4.0E-06; 0.41		11
rs1308699981	FCGR3A	0.807	0.440	1	161543085	missense variant	G/A	snv	4.0E-06		7
rs1467199	STAT1	1.000	0.120	2	191015776	intron variant	C/G;T	snv			2
rs146436713	TNFRSF13B	1.000	0.120	17	16948957	missense variant	C/A;T	snv	8.0E-06; 1.9E-04		1
rs80338835	MYH9	0.925	0.200	22	36282754	stop gained	G/A	snv	4.0E-06	7.0E-06	3
rs1161169998	TNFSF13B	1.000	0.120	13	108303360	missense variant	G/A	snv		7.0E-06	1
rs762513613	FCGR2C	0.752	0.280	1	161591315	missense variant	A/G	snv	4.2E-06	7.4E-06	11
rs745738344	TNF	0.653	0.600	6	31576786	synonymous variant	G/A	snv	1.6E-05	1.4E-05	28
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs1050501	FCGR2B	0.732	0.440	1	161674008	missense variant	T/C	snv	0.16	0.19	15
rs2297630	CXCL12	0.827	0.160	10	44376100	intron variant	G/A;T	snv		0.21	6
rs10499194		0.752	0.400	6	137681500	intron variant	C/T	snv		0.24	10
rs181206	IL27	0.742	0.440	16	28502082	missense variant	A/G	snv	0.28	0.24	16
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40