DisGeNET - a database of gene-disease associations

List of associated variants

Hashimoto Disease, C0677607

Source: ALL

Results per page

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
rs3850641	TNFSF4	0.716	0.400	1	173206693	intron variant	A/G	snv		0.14	17
rs7530511	IL23R ; C1orf141	0.742	0.400	1	67219704	missense variant	T/A;C	snv	0.88		12
rs17375018	C1orf141 ; IL23R	0.790	0.360	1	67189464	intron variant	G/A	snv		0.29	7
rs78645479	FOXD3-AS1 ; FOXD3	0.851	0.120	1	63322631	5 prime UTR variant	C/G;T	snv			4
rs7537605	VAV3	0.882	0.120	1	107800465	intron variant	G/A;T	snv			3
rs2184658	HLX-AS1 ; HLX	0.925	0.120	1	220879115	intron variant	C/G	snv		0.20	2
rs3753348	TNFRSF18	0.925	0.080	1	1208277	upstream gene variant	C/G;T	snv			2
rs12730735	AP4B1-AS1 ; PTPN22	1.000	0.040	1	113838835	intron variant	T/C	snv		0.21	1
rs2298213	TNFRSF18	1.000	0.040	1	1203822	synonymous variant	T/C	snv	9.1E-02	0.17	1
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs1990760	IFIH1	0.672	0.480	2	162267541	missense variant	C/T	snv	0.50	0.45	33
rs917997		0.701	0.480	2	102454108	downstream gene variant	T/A;C	snv			20
rs1534422	MIR3681HG	0.827	0.160	2	12500615	intron variant	G/A	snv		0.52	6
rs11675434	TPO	0.827	0.240	2	1404043	non coding transcript exon variant	C/T	snv		0.39	5
rs11571297		0.882	0.120	2	203880280	regulatory region variant	T/C	snv		0.44	3
rs2071400	TPO	0.882	0.120	2	1412867	intron variant	C/T	snv		0.11	3
rs6543116	IL1RL1	0.882	0.120	2	102311266	upstream gene variant	A/G	snv		0.76	3
rs2071403	TPO	0.925	0.120	2	1413472	5 prime UTR variant	A/G;T	snv			2
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs4684677	GHRLOS ; GHRL	0.742	0.360	3	10286769	missense variant	T/A	snv	0.10	6.6E-02	13