Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312733
rs869312733
TMEM98
0.020 GeneticVariation BEFREE Two dominant missense mutations of TMEM98, A193P and H196P, are associated with human nanophthalmos. 31266059

2019
dbSNP: rs869312733
rs869312733
TMEM98
0.020 GeneticVariation BEFREE Sanger sequencing subsequently showed that all other members of this pedigree with nanophthalmos also carry the His196Pro TMEM98 mutation. 26392740

2015