Have questions? Visit https://www.reddit.com/r/SNPedia

rs199476132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476132(C;C)
Make rs199476132(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5728
GeneSNORD28
is asnp
is mentioned by
dbSNPrs199476132
ebirs199476132
HLIrs199476132
Exacrs199476132
Varsomers199476132
Maprs199476132
PheGenIrs199476132
hapmaprs199476132
1000 genomesrs199476132
hgdprs199476132
ensemblrs199476132
gopubmedrs199476132
geneviewrs199476132
scholarrs199476132
googlers199476132
pharmgkbrs199476132
gwascentralrs199476132
openSNPrs199476132
23andMers199476132
23andMe allrs199476132
SNP Nexus

SNPshotrs199476132
SNPdbers199476132
MSV3drs199476132
GWAS Ctlgrs199476132
Max Magnitude0
ClinVar
Risk rs199476132(C;C)
Alt rs199476132(C;C)
Reference rs199476132(T;T)
Significance Pathogenic
Disease Mitochondrial complex I deficiency Cytochrome-c oxidase deficiency
Variation info
Gene
CLNDBN Mitochondrial complex I deficiency Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_012920.1:m.5728T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010247.2, RCV000010248.2,