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rs199476131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476131(C;C)
Make rs199476131(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5692
GeneSNORD28
is asnp
is mentioned by
dbSNPrs199476131
ebirs199476131
HLIrs199476131
Exacrs199476131
Varsomers199476131
Maprs199476131
PheGenIrs199476131
hapmaprs199476131
1000 genomesrs199476131
hgdprs199476131
ensemblrs199476131
gopubmedrs199476131
geneviewrs199476131
scholarrs199476131
googlers199476131
pharmgkbrs199476131
gwascentralrs199476131
openSNPrs199476131
23andMers199476131
23andMe allrs199476131
SNP Nexus

SNPshotrs199476131
SNPdbers199476131
MSV3drs199476131
GWAS Ctlgrs199476131
Max Magnitude0
ClinVar
Risk rs199476131(C;C)
Alt rs199476131(C;C)
Reference rs199476131(T;T)
Significance Pathogenic
Disease Ophthalmoplegia
Variation info
Gene
CLNDBN Ophthalmoplegia, isolated
Reversed 0
HGVS NC_012920.1:m.5692T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010246.2,