DisGeNET - a database of gene-disease associations

List of shared variants

Graves Disease, C0018213

Disease: Immune System Diseases

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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs2736340		0.683	0.480	8	11486464	upstream gene variant	C/T	snv		0.25	22
rs917997		0.701	0.480	2	102454108	downstream gene variant	T/A;C	snv			20
rs706778	IL2RA	0.695	0.320	10	6056986	intron variant	C/T	snv		0.46	19
rs231804		0.925	0.200	2	203843923	intergenic variant	C/T	snv		0.60	4