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rs879255248

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255248(A;A)
Make rs879255248(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position5696253
GeneLONP1
is asnp
is mentioned by
dbSNPrs879255248
ebirs879255248
HLIrs879255248
Exacrs879255248
Varsomers879255248
Maprs879255248
PheGenIrs879255248
hapmaprs879255248
1000 genomesrs879255248
hgdprs879255248
ensemblrs879255248
gopubmedrs879255248
geneviewrs879255248
scholarrs879255248
googlers879255248
pharmgkbrs879255248
gwascentralrs879255248
openSNPrs879255248
23andMers879255248
23andMe allrs879255248
SNP Nexus

SNPshotrs879255248
SNPdbers879255248
MSV3drs879255248
GWAS Ctlgrs879255248
Max Magnitude0
ClinVar
Risk rs879255248(A;A)
Alt rs879255248(A;A)
Reference rs879255248(C;C)
Significance Pathogenic
Disease CODAS syndrome
Variation info
Gene LONP1
CLNDBN CODAS syndrome
Reversed 1
HGVS NC_000019.9:g.5696264G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000157622.3,