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rs118203885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 MELAS Syndrome
(G;G) 0 common in clinvar
Make rs118203885(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position583
GeneGTF2IRD1
is asnp
is mentioned by
dbSNPrs118203885
ebirs118203885
HLIrs118203885
Exacrs118203885
Varsomers118203885
Maprs118203885
PheGenIrs118203885
hapmaprs118203885
1000 genomesrs118203885
hgdprs118203885
ensemblrs118203885
gopubmedrs118203885
geneviewrs118203885
scholarrs118203885
googlers118203885
pharmgkbrs118203885
gwascentralrs118203885
openSNPrs118203885
23andMers118203885
23andMe allrs118203885
SNP Nexus

SNPshotrs118203885
SNPdbers118203885
MSV3drs118203885
GWAS Ctlgrs118203885
Max Magnitude4

m.583G>A

MELAS syndrome

See OMIM 590070.0001


ClinVar
Risk rs118203885(A;A)
Alt rs118203885(A;A)
Reference rs118203885(G;G)
Significance Pathogenic
Disease Juvenile myopathy
Variation info
Gene
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 0
HGVS NC_012920.1:m.583G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010186.2,