DisGeNET - a database of gene-disease associations

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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
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs2285810	HECTD4			12	112261736	non coding transcript exon variant	T/C	snv		0.45	2
rs1183910	HNF1A	1.000	0.080	12	120983004	intron variant	G/A	snv		0.28	5
rs2650000	HNF1A-AS1	0.851	0.200	12	120951159	intron variant	A/C	snv		0.70	10
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		21
rs2244608	HNF1A ; HNF1A-AS1	0.882	0.160	12	120979185	intron variant	A/G	snv		0.29	9
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	21
rs4703642	LOC105379040			5	74966337	intron variant	A/G	snv		0.50	3
rs2126259	LOC157273	1.000		8	9327636	intron variant	T/C	snv		0.87	9
rs4841132	LOC157273			8	9326086	non coding transcript exon variant	A/G	snv		0.89	14
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	10
rs2228603	NCAN	0.790	0.360	19	19219115	missense variant	C/A;T	snv	2.8E-05; 5.9E-02		12
rs6857	NECTIN2	0.790	0.240	19	44888997	3 prime UTR variant	C/T	snv		0.13	16
rs2287921	RASIP1	1.000	0.040	19	48725015	non coding transcript exon variant	T/C	snv		0.37	4
rs340005	RORA-AS1 ; RORA			15	60585831	intron variant	G/A	snv		0.67	3
rs11220463	ST3GAL4			11	126378316	intron variant	A/T	snv		0.12	3
rs10401969	SUGP1	0.776	0.240	19	19296909	intron variant	T/C	snv		0.10	25
rs1160985	TOMM40	1.000	0.080	19	44900155	intron variant	C/T	snv		0.52	6
rs157580	TOMM40	0.882	0.160	19	44892009	intron variant	G/A	snv		0.69	14
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45