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rs764427452

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764427452(A;A)
Make rs764427452(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position5545248
GeneFARS2
is asnp
is mentioned by
dbSNPrs764427452
ebirs764427452
HLIrs764427452
Exacrs764427452
Varsomers764427452
Maprs764427452
PheGenIrs764427452
hapmaprs764427452
1000 genomesrs764427452
hgdprs764427452
ensemblrs764427452
gopubmedrs764427452
geneviewrs764427452
scholarrs764427452
googlers764427452
pharmgkbrs764427452
gwascentralrs764427452
openSNPrs764427452
23andMers764427452
23andMe allrs764427452
SNP Nexus

SNPshotrs764427452
SNPdbers764427452
MSV3drs764427452
GWAS Ctlgrs764427452
Max Magnitude0
ClinVar
Risk rs764427452(A;A)
Alt rs764427452(A;A)
Reference rs764427452(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 14
Variation info
Gene FARS2
CLNDBN Combined oxidative phosphorylation deficiency 14
Reversed 0
HGVS NC_000006.11:g.5545481G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239485.1,