DisGeNET - a database of gene-disease associations

ABLEPHARON-MACROSTOMIA SYNDROME, C1860224

Variant: rs699 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs699

rs699

AGT

0.010

GeneticVariation

BEFREE

ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients.

2010