Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515421
rs397515421
RMND1
0.800 GeneticVariation UNIPROT Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? 26238252

2016
dbSNP: rs397515421
rs397515421
RMND1
0.800 GeneticVariation UNIPROT RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. 25604853

2015
dbSNP: rs397515421
rs397515421
RMND1
0.800 GeneticVariation UNIPROT An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. 23022098

2012
dbSNP: rs397515421
rs397515421
RMND1
0.800 GeneticVariation UNIPROT Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. 23022099

2012
dbSNP: rs397515421
rs397515421
RMND1
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057519299
rs1057519299
RMND1
G 0.700 CausalMutation CLINVAR

dbSNP: rs115079861
rs115079861
RMND1
G 0.700 CausalMutation CLINVAR

dbSNP: rs144972972
rs144972972
RMND1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1562800908
rs1562800908
RMND1
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231472
rs606231472
RMND1
A 0.700 CausalMutation CLINVAR