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
rs151234	CLN3 ; APOBR	1.000	0.120	16	28494339	5 prime UTR variant	G/A;C	snv			2
rs16898264		1.000	0.120	6	32709375	upstream gene variant	G/A	snv		0.34	2
rs17211510	HLA-DQA1	1.000	0.120	6	32634653	intron variant	C/A	snv		0.26	2
rs17229044	CLEC16A	1.000	0.120	16	10969079	intron variant	C/T	snv		0.16	2
rs17673553	CLEC16A	1.000	0.120	16	11148049	intron variant	A/G	snv		0.18	2
rs200968	H3C12 ; H2BC17	1.000	0.120	6	27891790	intron variant	T/C	snv		0.16	2
rs2071550	HLA-DQB2	1.000	0.120	6	32763163	intron variant	C/A	snv		0.30	2
rs2072895	HLA-F	0.925	0.120	6	29724080	splice region variant	C/G;T	snv	0.42		2
rs2107202	TRIM40	1.000	0.120	6	30137966	intron variant	T/C	snv		0.75	2
rs2233578	PAX4	0.925	0.120	7	127614497	missense variant	G/A;T	snv	7.0E-03; 4.5E-06		2
rs2269241	PGM1	1.000	0.120	1	63643100	intron variant	T/C	snv		0.23	2
rs2358994	BCL2L15 ; AP4B1-AS1	0.925	0.120	1	113886839	intron variant	G/A	snv		0.16	2
rs2517532		0.925	0.120	6	31050630	upstream gene variant	A/G	snv		0.60	2
rs2735059	HLA-F ; HLA-F-AS1	0.925	0.120	6	29728077	3 prime UTR variant	G/A	snv	0.42	0.42	2
rs3095340		1.000	0.120	6	30759162	intron variant	A/C	snv		0.16	2
rs3135002		1.000	0.120	6	32700662	TF binding site variant	A/C	snv		0.80	2
rs34593439	CTSH	1.000	0.120	15	78942615	intron variant	G/A;C	snv		0.10	2
rs35732034	IFIH1	1.000	0.120	2	162268086	splice donor variant	C/T	snv	6.6E-03	5.1E-03	2
rs35744605	IFIH1	1.000	0.120	2	162277580	stop gained	C/A;G;T	snv	3.2E-03; 4.0E-06; 4.0E-06		2
rs45450798	PTPN2	1.000	0.120	18	12792941	3 prime UTR variant	C/G	snv		0.12	2
rs559047		1.000	0.120	1	238590616	intergenic variant	T/A;C	snv			2
rs5742913	TCF7	1.000	0.120	5	134115992	missense variant	C/A;G;T	snv	8.4E-02; 2.0E-05; 1.2E-05		2
rs6043409	SIRPG ; SIRPG-AS1	1.000	0.120	20	1635560	missense variant	A/G	snv	0.73	0.72	2
rs61211515		1.000	0.120	6	30133199	upstream gene variant	TT/-;T;TTT;TTTT	delins		0.14	2
rs6422747	THBS2 ; LOC101929523	1.000	0.120	6	169229688	intron variant	G/A	snv	0.61	0.68	2