Have questions? Visit https://www.reddit.com/r/SNPedia

rs863224914

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863224914(-;AAG)
Make rs863224914(AAG;AAG)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position102218862
GeneRRM2B
is asnp
is mentioned by
dbSNPrs863224914
ClinGenrs863224914
ebirs863224914
HLIrs863224914
Exacrs863224914
Varsomers863224914
Maprs863224914
PheGenIrs863224914
hapmaprs863224914
1000 genomesrs863224914
hgdprs863224914
ensemblrs863224914
gopubmedrs863224914
geneviewrs863224914
scholarrs863224914
googlers863224914
pharmgkbrs863224914
gwascentralrs863224914
openSNPrs863224914
23andMers863224914
23andMe allrs863224914
SNP Nexus

SNPshotrs863224914
SNPdbers863224914
MSV3drs863224914
GWAS Ctlgrs863224914
Max Magnitude0
ClinVar
Risk rs863224914(AAG;AAG)
Alt rs863224914(AAG;AAG)
Reference Rs863224914(;)
Significance Probable-Pathogenic
Disease Mitochondrial DNA depletion syndrome
Variation info
Gene RRM2B
CLNDBN Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
Reversed 1
HGVS NC_000008.10:g.103231090_103231091insCTT
CLNSRC
CLNACC RCV000198969.1,