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
rs2430561	IFNG ; IFNG-AS1	0.590	0.760	12	68158742	intron variant	T/A	snv		0.36	50
rs1161169998	TNFSF13B	1.000	0.120	13	108303360	missense variant	G/A	snv		7.0E-06	1
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs181206	IL27	0.742	0.440	16	28502082	missense variant	A/G	snv	0.28	0.24	16
rs146436713	TNFRSF13B	1.000	0.120	17	16948957	missense variant	C/A;T	snv	8.0E-06; 1.9E-04		1
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
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs2424913	DNMT3B	0.708	0.440	20	32786453	intron variant	C/T	snv	0.56	0.53	18
rs80338835	MYH9	0.925	0.200	22	36282754	stop gained	G/A	snv	4.0E-06	7.0E-06	3