DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Diabetes Mellitus, Non-Insulin-Dependent ×

Variants associated to the Gene: HNF1A ×

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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
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		6
rs2393791	HNF1A	0.925	0.160	12	120986153	intron variant	C/T	snv		0.62	3
rs7310409	HNF1A	0.925	0.160	12	120987058	intron variant	A/C;G;T	snv			3
rs1183910	HNF1A	1.000	0.080	12	120983004	intron variant	G/A	snv		0.28	2
rs12427353	HNF1A	1.000	0.080	12	120989098	intron variant	G/A;C;T	snv			2
rs2464196	HNF1A	0.742	0.320	12	120997624	missense variant	G/A	snv	0.34	0.27	2
rs2259820	HNF1A	0.882	0.160	12	120997539	synonymous variant	C/T	snv	0.34	0.26	1
rs1800574	HNF1A ; HNF1A-AS1	0.882	0.080	12	120979061	missense variant	C/T	snv	2.9E-02	2.2E-02	1