Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692037
rs1131692037
NME3 ; MRPS34 ; EME2
T 0.800 GeneticVariation CLINVAR Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 28777931

2017
dbSNP: rs1131692037
rs1131692037
NME3 ; MRPS34 ; EME2
0.800 GeneticVariation UNIPROT

dbSNP: rs1131692037
rs1131692037
NME3 ; MRPS34 ; EME2
T 0.800 CausalMutation CLINVAR

dbSNP: rs763672163
rs763672163
NME3 ; MRPS34 ; EME2
A 0.700 GeneticVariation CLINVAR Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 28777931

2017
dbSNP: rs1161932777
rs1161932777
NME3 ; MRPS34 ; EME2
A 0.700 CausalMutation CLINVAR

dbSNP: rs563189672
rs563189672
NME3 ; MRPS34 ; EME2
T 0.700 CausalMutation CLINVAR

dbSNP: rs763672163
rs763672163
NME3 ; MRPS34 ; EME2
A 0.700 CausalMutation CLINVAR