DisGeNET - a database of gene-disease associations

List of associated variants

Impaired insulin secretion, C0948379

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
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs11568820	VDR	0.672	0.480	12	47908762	intron variant	C/T	snv		0.38	27
rs1805097	IRS2	0.689	0.360	13	109782884	missense variant	C/G;T	snv	0.35		22
rs1337503417	KRT16	0.790	0.160	17	41612325	missense variant	G/T	snv	4.0E-06		12
rs137852671	ABCC8	0.790	0.160	11	17394295	missense variant	C/T	snv			10
rs1181860747	INSR	0.776	0.240	19	7122961	missense variant	C/T	snv			10
rs290487	TCF7L2	0.776	0.280	10	113149972	intron variant	C/T	snv		0.16	10
rs11708067	ADCY5	0.882	0.080	3	123346931	intron variant	A/G	snv		0.19	9
rs7754840	CDKAL1	0.807	0.200	6	20661019	intron variant	G/A;C;T	snv			9
rs10946398	CDKAL1	0.827	0.160	6	20660803	intron variant	A/C	snv		0.40	7
rs59852838	ABCC8	0.882	0.120	11	17453228	missense variant	T/C	snv	4.0E-05	4.9E-05	3
rs2235491	SLC2A10	0.925	0.080	20	46725652	missense variant	G/A	snv	0.10	0.12	2
rs370970280	SLC2A11	0.925	0.080	22	23877794	missense variant	G/A	snv	1.2E-05	1.2E-04	2
rs977340089	SLC2A11	0.925	0.080	22	23877782	missense variant	G/A;T	snv			2