DisGeNET - a database of gene-disease associations

List of associated variants

Diabetes Mellitus, Insulin-Dependent, C0011854

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs6679677	PHTF1	0.653	0.320	1	113761186	upstream gene variant	C/A	snv		6.7E-02	26
rs35829419	NLRP3	0.689	0.560	1	247425556	missense variant	C/A	snv	3.9E-02	3.3E-02	23
rs11580078	C1orf141 ; IL23R	0.724	0.240	1	67203951	intron variant	C/A;G	snv			14
rs2066363	ADGRL2	0.724	0.240	1	81771892	intron variant	C/T	snv		0.71	14
rs34884278		0.724	0.240	1	172869708	intron variant	C/T	snv		0.63	14
rs55705316		0.724	0.240	1	206760172	regulatory region variant	T/A;G	snv			14
rs6689858	CRB1	0.724	0.240	1	197406337	intron variant	T/C	snv		0.39	14
rs1131498	C1orf112 ; SELL	0.732	0.360	1	169707345	missense variant	A/G	snv	0.21	0.22	13
rs7528684	FCRL3	0.752	0.560	1	157701026	upstream gene variant	A/G	snv		0.57	13
rs1256046734	LEPR	0.763	0.280	1	65621409	missense variant	A/G	snv		7.0E-06	12
rs2488457	AP4B1-AS1 ; PTPN22	0.763	0.480	1	113872746	intron variant	G/A;C	snv			11
rs3024505		0.790	0.320	1	206766559	upstream gene variant	G/A	snv		0.11	10
rs3024493	IL19 ; IL10	0.776	0.280	1	206770623	intron variant	C/A;T	snv		0.11	9