Disease: Coloboma of optic disc ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908403
rs121908403
Entrez Id: 10653
Gene Symbol: SPINT2
SPINT2
CUI: C0155299
Disease:
Coloboma of optic disc 		0.010 GeneticVariation BEFREE Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). 29575628 2018