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rs199476141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476141(A;A)
Make rs199476141(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position4332
GeneTBC1D16
is asnp
is mentioned by
dbSNPrs199476141
ebirs199476141
HLIrs199476141
Exacrs199476141
Varsomers199476141
Maprs199476141
PheGenIrs199476141
hapmaprs199476141
1000 genomesrs199476141
hgdprs199476141
ensemblrs199476141
gopubmedrs199476141
geneviewrs199476141
scholarrs199476141
googlers199476141
pharmgkbrs199476141
gwascentralrs199476141
openSNPrs199476141
23andMers199476141
23andMe allrs199476141
SNP Nexus

SNPshotrs199476141
SNPdbers199476141
MSV3drs199476141
GWAS Ctlgrs199476141
Max Magnitude0
ClinVar
Risk rs199476141(A;A)
Alt rs199476141(A;A)
Reference rs199476141(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.4332G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010240.4,