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
rs1064794268	GCK	0.925	0.080	7	44153396	missense variant	T/G	snv			2
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs2273773	SIRT1	0.790	0.360	10	67906841	synonymous variant	T/C	snv	0.11	7.1E-02	9
rs340874	PROX1 ; PROX1-AS1	0.882	0.080	1	213985913	non coding transcript exon variant	T/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
rs1057524903	GCK ; LOC105375258	0.925	0.080	7	44146466	missense variant	T/C	snv			2
rs1057524907	INS-IGF2 ; INS	0.925	0.080	11	2159907	missense variant	T/C	snv			2
rs1562715574	LOC105375258 ; GCK	0.925	0.080	7	44147795	missense variant	T/C	snv			2
rs3738435	CHRM3	0.925	0.080	1	239907303	intron variant	T/C	snv		0.23	2
rs1018185646	HNF4A	1.000	0.040	20	44428455	missense variant	T/C	snv	4.0E-06		1
rs6084264	AVP	1.000	0.040	20	3089925	upstream gene variant	T/C	snv		0.58	1
rs755498926	GCK	1.000	0.040	7	44145228	missense variant	T/C	snv	4.1E-06		1
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv			21
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs4402960	IGF2BP2	0.724	0.400	3	185793899	intron variant	G/T	snv		0.38	21
rs4580704	CLOCK	0.790	0.200	4	55460540	intron variant	G/C	snv		0.69	13
rs1564911425	INS-IGF2 ; INS	0.925	0.080	11	2159895	missense variant	G/C	snv			2
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs369841551	MC4R	0.882	0.120	18	60371884	stop gained	G/A;T	snv	4.0E-06		3
rs104894006	GCK ; LOC105375258	0.925	0.040	7	44149992	stop gained	G/A;T	snv	1.2E-05		2