DisGeNET - a database of gene-disease associations

List of associated variants

Diabetes Mellitus, C0011849

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
rs35927125	KLF11	0.925	0.080	2	10046292	missense variant	A/G;T	snv	9.3E-02		3
rs34336420	KLF11	0.882	0.080	2	10047996	missense variant	C/G;T	snv	4.0E-06; 3.3E-03		4
rs121912645	KLF11	0.882	0.080	2	10048376	missense variant	G/T	snv	1.3E-04	8.4E-05	4
rs867120336	KLF11	1.000	0.040	2	10048589	frameshift variant	-/A	delins	4.1E-06		2
rs12910524		1.000	0.040	15	101262360	intergenic variant	T/A;C	snv			2
rs2335491	FGFRL1	1.000	0.040	4	1017278	intron variant	T/A;G	snv		9.5E-06	2
rs3733197	BANK1	0.742	0.320	4	101918130	missense variant	G/A	snv	0.31	0.30	13
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs13114738	SLC39A8	0.851	0.120	4	102363708	intron variant	C/A;T	snv			16
rs1520220	LINC02456 ; IGF1	0.807	0.280	12	102402744	intron variant	G/C;T	snv		0.76	9
rs2195239	LINC02456 ; IGF1	0.851	0.240	12	102462924	non coding transcript exon variant	C/G	snv		0.28	7
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs7950273	PDGFD	0.925	0.120	11	104160870	intron variant	C/G	snv		0.32	5
rs9282541	ABCA1	0.790	0.160	9	104858554	missense variant	G/A	snv	1.3E-02	4.4E-03	13
rs7528153	VAV3	0.925	0.080	1	107765105	missense variant	T/A	snv	0.58	0.64	4
rs189037	ATM ; NPAT	0.689	0.400	11	108223106	5 prime UTR variant	G/A	snv		0.49	22
rs786203926	ATM	0.882	0.120	11	108227678	synonymous variant	T/C	snv			4
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs11212617	C11orf65	0.827	0.200	11	108412434	intron variant	C/A	snv		0.49	7
rs2268388	ACACB	0.851	0.200	12	109205840	intron variant	G/A	snv		0.14	6
rs2239607	ACACB	0.925	0.120	12	109209475	intron variant	A/G	snv		0.14	3
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	22
rs536289169	GSTM1 ; GSTM2	0.752	0.360	1	109688180	missense variant	C/T	snv	4.8E-04		13
rs2241745	IRS2	0.882	0.120	13	109770184	intron variant	C/T	snv		0.88	4