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rs727505361

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727505361(A;A)
Make rs727505361(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position110683051
GeneCARS2
is asnp
is mentioned by
dbSNPrs727505361
ebirs727505361
HLIrs727505361
Exacrs727505361
Varsomers727505361
Maprs727505361
PheGenIrs727505361
hapmaprs727505361
1000 genomesrs727505361
hgdprs727505361
ensemblrs727505361
gopubmedrs727505361
geneviewrs727505361
scholarrs727505361
googlers727505361
pharmgkbrs727505361
gwascentralrs727505361
openSNPrs727505361
23andMers727505361
23andMe allrs727505361
SNP Nexus

SNPshotrs727505361
SNPdbers727505361
MSV3drs727505361
GWAS Ctlgrs727505361
Max Magnitude0
ClinVar
Risk rs727505361(A;A)
Alt rs727505361(A;A)
Reference rs727505361(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 27
Variation info
Gene CARS2
CLNDBN Combined oxidative phosphorylation deficiency 27
Reversed 1
HGVS NC_000013.10:g.111335398C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000156934.4,