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
rs10484821	LOC105378024	1.000	0.040	6	139547773	intron variant	T/C	snv		0.15	2
rs10486567	JAZF1	0.851	0.120	7	27936944	intron variant	G/A	snv		0.28	9
rs10489177	C1orf112 ; METTL18	0.925	0.120	1	169793666	missense variant	T/A;G	snv	4.1E-06; 0.19		4
rs104894014	GCK	0.925	0.080	7	44145167	missense variant	G/A	snv			3
rs1049353	CNR1	0.630	0.600	6	88143916	synonymous variant	C/T	snv	0.21	0.20	42
rs10494366	LOC105371475 ; NOS1AP	0.851	0.200	1	162115895	intron variant	G/T	snv		0.54	7
rs10497721	LOC101927366 ; TMEFF2	1.000	0.040	2	192049636	intron variant	C/A;T	snv			2
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs10509291		0.827	0.280	10	67875446	downstream gene variant	T/A	snv		7.1E-02	6
rs10517086	LINC02357	0.882	0.160	4	26083889	intron variant	G/A	snv		0.27	4
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1052700	PLIN1 ; KIF7	1.000	0.040	15	89665079	3 prime UTR variant	A/T	snv		0.26	3
rs1056534	FN3K ; TBCD	0.882	0.200	17	82750725	synonymous variant	C/A;G;T	snv	0.62		5
rs1057293	SGK1	0.925	0.120	6	134172259	synonymous variant	G/A	snv	0.12	0.11	4
rs1057515576	ARL6	0.807	0.280	3	97787991	frameshift variant	TAT/GAAAA	delins			9
rs1057518903	MEN1	0.882	0.160	11	64807890	splice region variant	C/-	delins			6
rs1057520291	HNF1A	1.000	0.120	12	120989017	stop gained	C/A;T	snv	4.0E-06		2
rs1057520504	HNF1A	0.882	0.080	12	120994238	missense variant	G/A	snv			4
rs1060366	ATP1A1	1.000	0.040	1	116384040	synonymous variant	A/G	snv	1.3E-03	1.4E-03	2
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs10636	MT2A	0.851	0.160	16	56609431	3 prime UTR variant	G/C	snv		0.26	7
rs1063856	VWF	0.763	0.400	12	6044368	missense variant	T/C;G	snv	0.31		14
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69		24