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rs753472937

From SNPedia

Orientationplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs753472937(-;-)
Make rs753472937(-;CTC)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position110683055
GeneCARS2
is asnp
is mentioned by
dbSNPrs753472937
ebirs753472937
HLIrs753472937
Exacrs753472937
Varsomers753472937
Maprs753472937
PheGenIrs753472937
hapmaprs753472937
1000 genomesrs753472937
hgdprs753472937
ensemblrs753472937
gopubmedrs753472937
geneviewrs753472937
scholarrs753472937
googlers753472937
pharmgkbrs753472937
gwascentralrs753472937
openSNPrs753472937
23andMers753472937
23andMe allrs753472937
SNP Nexus

SNPshotrs753472937
SNPdbers753472937
MSV3drs753472937
GWAS Ctlgrs753472937
Max Magnitude0
ClinVar
Risk rs753472937(;)
Alt rs753472937(;)
Reference rs753472937(CTC;CTC)
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.111335402_111335404delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000170338.1, RCV000202402.1,