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rs557671802

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs557671802(A;A)
Make rs557671802(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position110677007
GeneCARS2
is asnp
is mentioned by
dbSNPrs557671802
ebirs557671802
HLIrs557671802
Exacrs557671802
Varsomers557671802
Maprs557671802
PheGenIrs557671802
hapmaprs557671802
1000 genomesrs557671802
hgdprs557671802
ensemblrs557671802
gopubmedrs557671802
geneviewrs557671802
scholarrs557671802
googlers557671802
pharmgkbrs557671802
gwascentralrs557671802
openSNPrs557671802
23andMers557671802
23andMe allrs557671802
SNP Nexus

SNPshotrs557671802
SNPdbers557671802
MSV3drs557671802
GWAS Ctlgrs557671802
Max Magnitude0
ClinVar
Risk rs557671802(A;A)
Alt rs557671802(A;A)
Reference Rs557671802(G;G)
Significance Pathogenic
Disease Alpers encephalopathy Combined oxidative phosphorylation deficiency 27
Variation info
Gene CARS2
CLNDBN Alpers encephalopathy Combined oxidative phosphorylation deficiency 27
Reversed 0
HGVS NC_000013.10:g.111329354G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170338.1, RCV000202394.2,