DisGeNET - a database of gene-disease associations

List of associated variants

Hyperglycemia, C0020456

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
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs340874	PROX1 ; PROX1-AS1	0.882	0.080	1	213985913	non coding transcript exon variant	T/C	snv		0.40	7
rs953686324	CLCNKB	0.851	0.160	1	16044506	frameshift variant	-/G	delins	4.3E-06	5.6E-05	7
rs267607555	LMNA	0.807	0.280	1	156136009	missense variant	C/T	snv		7.0E-06	6
rs164147	NOS1AP	0.882	0.080	1	162368607	3 prime UTR variant	A/C	snv		0.76	3
rs3738435	CHRM3	0.925	0.080	1	239907303	intron variant	T/C	snv		0.23	2
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs13412852	LPIN1	0.851	0.120	2	11774815	intron variant	C/T	snv		0.26	4
rs561017686	NEUROD1 ; CERKL	0.882	0.120	2	181678138	missense variant	G/A;C	snv	8.0E-06; 8.4E-04		4
rs1447680989	GCKR	1.000	0.040	2	27501147	missense variant	G/A	snv	4.0E-06		1
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs4402960	IGF2BP2	0.724	0.400	3	185793899	intron variant	G/T	snv		0.38	21
rs121909244	PPARG	0.776	0.160	3	12434111	missense variant	C/A;T	snv	4.0E-06		11
rs7744	MYD88	0.827	0.160	3	38142530	3 prime UTR variant	A/G	snv		0.13	5
rs534828104	AHSG	0.925	0.080	3	186618566	missense variant	A/G	snv			2
rs1801260	CLOCK ; TMEM165	0.695	0.280	4	55435202	3 prime UTR variant	A/G	snv		0.25	28
rs4580704	CLOCK	0.790	0.200	4	55460540	intron variant	G/C	snv		0.69	13
rs11932595	CLOCK	0.827	0.160	4	55457430	intron variant	A/G;T	snv			12
rs10010131	WFS1	0.827	0.120	4	6291188	intron variant	A/G	snv	0.66	0.63	7
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49