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rs118192101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192101(A;A)
Make rs118192101(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position8313
is asnp
is mentioned by
dbSNPrs118192101
dbSNP (classic)rs118192101
ClinGenrs118192101
ebirs118192101
HLIrs118192101
Exacrs118192101
Gnomadrs118192101
Varsomers118192101
LitVarrs118192101
Maprs118192101
PheGenIrs118192101
Biobankrs118192101
1000 genomesrs118192101
hgdprs118192101
ensemblrs118192101
geneviewrs118192101
scholarrs118192101
googlers118192101
pharmgkbrs118192101
gwascentralrs118192101
openSNPrs118192101
23andMers118192101
SNPshotrs118192101
SNPdbers118192101
MSV3drs118192101
GWAS Ctlgrs118192101
Max Magnitude0
ClinVar
Risk rs118192101(A;A)
Alt rs118192101(A;A)
Reference Rs118192101(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 0
HGVS NC_012920.1:m.8313G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010200.5,