DisGeNET - a database of gene-disease associations

ABLEPHARON-MACROSTOMIA SYNDROME, C1860224

Variant: rs12757362 ×

Source: ALL

Results per page

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs12757362

rs12757362

EGLN1

1

1.000

0.120

1

231426746

intron variant

G/C

snv

0.12

0.010

1.000

2014

2014