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rs200077222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200077222(C;C)
Make rs200077222(C;T)
ReferenceGRCh38 38.1/142
ChromosomeMT
Position5814
is asnp
is mentioned by
dbSNPrs200077222
ebirs200077222
HLIrs200077222
Exacrs200077222
Varsomers200077222
Maprs200077222
PheGenIrs200077222
hapmaprs200077222
1000 genomesrs200077222
hgdprs200077222
ensemblrs200077222
gopubmedrs200077222
geneviewrs200077222
scholarrs200077222
googlers200077222
pharmgkbrs200077222
gwascentralrs200077222
openSNPrs200077222
23andMers200077222
23andMe allrs200077222
SNP Nexus

SNPshotrs200077222
SNPdbers200077222
MSV3drs200077222
GWAS Ctlgrs200077222
Max Magnitude0
ClinVar
Risk rs200077222(C;C)
Alt rs200077222(C;C)
Reference rs200077222(T;T)
Significance Pathogenic
Disease Juvenile myopathy
Variation info
Gene
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 0
HGVS NC_012920.1:m.5814T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022896.2,