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rs879255247

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255247(C;T)
Make rs879255247(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position5694889
GeneLONP1
is asnp
is mentioned by
dbSNPrs879255247
ebirs879255247
HLIrs879255247
Exacrs879255247
Varsomers879255247
Maprs879255247
PheGenIrs879255247
hapmaprs879255247
1000 genomesrs879255247
hgdprs879255247
ensemblrs879255247
gopubmedrs879255247
geneviewrs879255247
scholarrs879255247
googlers879255247
pharmgkbrs879255247
gwascentralrs879255247
openSNPrs879255247
23andMers879255247
23andMe allrs879255247
SNP Nexus

SNPshotrs879255247
SNPdbers879255247
MSV3drs879255247
GWAS Ctlgrs879255247
Max Magnitude0
ClinVar
Risk rs879255247(T;T)
Alt rs879255247(T;T)
Reference rs879255247(C;C)
Significance Pathogenic
Disease CODAS syndrome
Variation info
Gene LONP1
CLNDBN CODAS syndrome
Reversed 1
HGVS NC_000019.9:g.5694900G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157621.3,