DisGeNET - a database of gene-disease associations

rs2057482, HIF1A-AS2;HIF1A-AS3;HIF1A

N. diseases: 21

Disease: Cervix carcinoma ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Cervix carcinoma

CUI:	C0302592
Disease:	Cervix carcinoma

283

0.701

0.440

14

61747130

3 prime UTR variant

T/C

snv

0.84

0.80

0.010

1.000

2014

2014