Gene: EMC1-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553252938
rs1553252938
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288

2016
dbSNP: rs1553252938
rs1553252938
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 23105016

2013