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rs879255249

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255249(C;T)
Make rs879255249(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position5694536
GeneLONP1
is asnp
is mentioned by
dbSNPrs879255249
ebirs879255249
HLIrs879255249
Exacrs879255249
Varsomers879255249
Maprs879255249
PheGenIrs879255249
hapmaprs879255249
1000 genomesrs879255249
hgdprs879255249
ensemblrs879255249
gopubmedrs879255249
geneviewrs879255249
scholarrs879255249
googlers879255249
pharmgkbrs879255249
gwascentralrs879255249
openSNPrs879255249
23andMers879255249
23andMe allrs879255249
SNP Nexus

SNPshotrs879255249
SNPdbers879255249
MSV3drs879255249
GWAS Ctlgrs879255249
Max Magnitude0
ClinVar
Risk rs879255249(T;T)
Alt rs879255249(T;T)
Reference rs879255249(C;C)
Significance Pathogenic
Disease CODAS syndrome
Variation info
Gene LONP1
CLNDBN CODAS syndrome
Reversed 1
HGVS NC_000019.9:g.5694547G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157623.3,