Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767004810
rs767004810
TBCE
T 0.700 CausalMutation CLINVAR New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 25097779

2014
dbSNP: rs758937799
rs758937799
TBCE
A 0.700 GeneticVariation CLINVAR Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028

2002
dbSNP: rs121908384
rs121908384
TBCE
A 0.700 CausalMutation CLINVAR

dbSNP: rs767004810
rs767004810
TBCE
T 0.700 GeneticVariation CLINVAR