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rs730882154

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882154(C;C)
Make rs730882154(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position78493063
GeneLOC105369403, NARS2
is asnp
is mentioned by
dbSNPrs730882154
ebirs730882154
HLIrs730882154
Exacrs730882154
Varsomers730882154
Maprs730882154
PheGenIrs730882154
hapmaprs730882154
1000 genomesrs730882154
hgdprs730882154
ensemblrs730882154
gopubmedrs730882154
geneviewrs730882154
scholarrs730882154
googlers730882154
pharmgkbrs730882154
gwascentralrs730882154
openSNPrs730882154
23andMers730882154
23andMe allrs730882154
SNP Nexus

SNPshotrs730882154
SNPdbers730882154
MSV3drs730882154
GWAS Ctlgrs730882154
Max Magnitude0
ClinVar
Risk rs730882154(C;C)
Alt rs730882154(C;C)
Reference rs730882154(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 24
Variation info
Gene NARS2
CLNDBN Combined oxidative phosphorylation deficiency 24
Reversed 1
HGVS NC_000011.9:g.78204109C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000162034.3,