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rs118203887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203887(A;A)
Make rs118203887(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position622
GeneGTF2IRD1
is asnp
is mentioned by
dbSNPrs118203887
ebirs118203887
HLIrs118203887
Exacrs118203887
Varsomers118203887
Maprs118203887
PheGenIrs118203887
hapmaprs118203887
1000 genomesrs118203887
hgdprs118203887
ensemblrs118203887
gopubmedrs118203887
geneviewrs118203887
scholarrs118203887
googlers118203887
pharmgkbrs118203887
gwascentralrs118203887
openSNPrs118203887
23andMers118203887
23andMe allrs118203887
SNP Nexus

SNPshotrs118203887
SNPdbers118203887
MSV3drs118203887
GWAS Ctlgrs118203887
Max Magnitude0
ClinVar
Risk rs118203887(A;A)
Alt rs118203887(A;A)
Reference rs118203887(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene
CLNDBN Myopathy, mitochondrial, late-onset
Reversed 0
HGVS NC_012920.1:m.622G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010188.2,