DisGeNET - a database of gene-disease associations

List of associated variants

Chronic graft-versus-host disease, C0867389

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
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			14
rs2301436	FGFR1OP	0.752	0.320	6	167024500	intron variant	C/T	snv		0.42	11
rs1131012	PECAM1	0.763	0.280	17	64350416	missense variant	T/C	snv		0.38	10
rs2229569	SELL ; C1orf112	0.790	0.360	1	169704697	missense variant	G/A;T	snv	0.21; 3.2E-05		8
rs3093023	LOC105378122 ; CCR6	0.851	0.160	6	167120802	intron variant	G/A	snv		0.34	7
rs668	PECAM1	0.851	0.240	17	64377836	missense variant	C/G;T	snv			4
rs2278293	IMPDH1	0.882	0.040	7	128400698	non coding transcript exon variant	C/T	snv		0.47	3
rs7588571	REG3A	0.882	0.040	2	79161461	intron variant	G/A	snv		0.49	3
rs11545566	SOAT1	0.882	0.080	1	179293868	5 prime UTR variant	G/A	snv		0.24	3
rs2893321	TNFSF13B	0.882	0.200	13	108290686	intron variant	A/G	snv		0.20	3
rs1805410	PARP1	1.000	0.040	1	226380964	intron variant	T/C	snv		0.13	1
rs12428930	TNFSF13B	1.000	0.040	13	108287357	intron variant	A/C	snv		0.20	1
rs16972217	TNFSF13B	1.000	0.040	13	108283099	intron variant	C/T	snv		0.21	1
rs7993590	TNFSF13B	1.000	0.040	13	108283554	intron variant	A/T	snv		0.21	1