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

rs199474664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474664(C;C)
Make rs199474664(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position3250
GeneDDX27
is asnp
is mentioned by
dbSNPrs199474664
ebirs199474664
HLIrs199474664
Exacrs199474664
Varsomers199474664
Maprs199474664
PheGenIrs199474664
hapmaprs199474664
1000 genomesrs199474664
hgdprs199474664
ensemblrs199474664
gopubmedrs199474664
geneviewrs199474664
scholarrs199474664
googlers199474664
pharmgkbrs199474664
gwascentralrs199474664
openSNPrs199474664
23andMers199474664
23andMe allrs199474664
SNP Nexus

SNPshotrs199474664
SNPdbers199474664
MSV3drs199474664
GWAS Ctlgrs199474664
Max Magnitude0
ClinVar
Risk rs199474664(C;C)
Alt rs199474664(C;C)
Reference rs199474664(T;T)
Significance Pathogenic
Disease Skeletal myopathy
Variation info
Gene
CLNDBN Skeletal myopathy, responsive to riboflavin
Reversed 0
HGVS NC_012920.1:m.3250T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010216.2,