SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Disease: Hydrophthalmos ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886059596
rs886059596
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0020302
Disease:
Hydrophthalmos 		0.010 GeneticVariation BEFREE We conclude from the very low penetrance and genetic epidemiological analyses that c.1103G>A (p.R368H) is unlikely to be a disease-causing recessive mutation in congenital glaucoma as previously reported. 29556725 2019