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

rs199476130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476130(A;A)
Make rs199476130(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5703
GeneSNORD28
is asnp
is mentioned by
dbSNPrs199476130
ebirs199476130
HLIrs199476130
Exacrs199476130
Varsomers199476130
Maprs199476130
PheGenIrs199476130
hapmaprs199476130
1000 genomesrs199476130
hgdprs199476130
ensemblrs199476130
gopubmedrs199476130
geneviewrs199476130
scholarrs199476130
googlers199476130
pharmgkbrs199476130
gwascentralrs199476130
openSNPrs199476130
23andMers199476130
23andMe allrs199476130
SNP Nexus

SNPshotrs199476130
SNPdbers199476130
MSV3drs199476130
GWAS Ctlgrs199476130
Max Magnitude0
ClinVar
Risk rs199476130(A;A)
Alt rs199476130(A;A)
Reference rs199476130(G;G)
Significance Pathogenic
Disease Ophthalmoplegia
Variation info
Gene
CLNDBN Ophthalmoplegia, isolated
Reversed 0
HGVS NC_012920.1:m.5703G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010245.2,