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rs199474673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474673(A;A)
Make rs199474673(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5521
GeneSMR3B
is asnp
is mentioned by
dbSNPrs199474673
ebirs199474673
HLIrs199474673
Exacrs199474673
Varsomers199474673
Maprs199474673
PheGenIrs199474673
hapmaprs199474673
1000 genomesrs199474673
hgdprs199474673
ensemblrs199474673
gopubmedrs199474673
geneviewrs199474673
scholarrs199474673
googlers199474673
pharmgkbrs199474673
gwascentralrs199474673
openSNPrs199474673
23andMers199474673
23andMe allrs199474673
SNP Nexus

SNPshotrs199474673
SNPdbers199474673
MSV3drs199474673
GWAS Ctlgrs199474673
Max Magnitude0
ClinVar
Risk rs199474673(A;A)
Alt rs199474673(A;A)
Reference rs199474673(G;G)
Significance Pathogenic
Disease Mitochondrial myopathy
Variation info
Gene
CLNDBN Mitochondrial myopathy
Reversed 0
HGVS NC_012920.1:m.5521G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010166.2,