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rs118203889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203889(A;A)
Make rs118203889(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position12207
is asnp
is mentioned by
dbSNPrs118203889
dbSNP (classic)rs118203889
ClinGenrs118203889
ebirs118203889
HLIrs118203889
Exacrs118203889
Gnomadrs118203889
Varsomers118203889
LitVarrs118203889
Maprs118203889
PheGenIrs118203889
Biobankrs118203889
1000 genomesrs118203889
hgdprs118203889
ensemblrs118203889
geneviewrs118203889
scholarrs118203889
googlers118203889
pharmgkbrs118203889
gwascentralrs118203889
openSNPrs118203889
23andMers118203889
SNPshotrs118203889
SNPdbers118203889
MSV3drs118203889
GWAS Ctlgrs118203889
Max Magnitude0
ClinVar
Risk rs118203889(A;A)
Alt rs118203889(A;A)
Reference Rs118203889(G;G)
Significance Pathogenic
Disease MERRF/MELAS overlap syndrome
Variation info
Gene
CLNDBN MERRF/MELAS overlap syndrome
Reversed 0
HGVS NC_012920.1:m.12207G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010173.2,