Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320625
rs869320625
EMC1
0.800 GeneticVariation UNIPROT

dbSNP: rs869320625
rs869320625
EMC1
A 0.800 CausalMutation CLINVAR

dbSNP: rs879253819
rs879253819
EMC1 ; EMC1-AS1
0.700 GeneticVariation UNIPROT Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288

2016
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs869320626
rs869320626
EMC1 ; EMC1-AS1
0.700 GeneticVariation UNIPROT