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rs730880293

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880293(A;G)
Make rs730880293(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position5693737
GeneLOC105372254, LONP1
is asnp
is mentioned by
dbSNPrs730880293
ebirs730880293
HLIrs730880293
Exacrs730880293
Varsomers730880293
Maprs730880293
PheGenIrs730880293
hapmaprs730880293
1000 genomesrs730880293
hgdprs730880293
ensemblrs730880293
gopubmedrs730880293
geneviewrs730880293
scholarrs730880293
googlers730880293
pharmgkbrs730880293
gwascentralrs730880293
openSNPrs730880293
23andMers730880293
23andMe allrs730880293
SNP Nexus

SNPshotrs730880293
SNPdbers730880293
MSV3drs730880293
GWAS Ctlgrs730880293
Max Magnitude0
ClinVar
Risk rs730880293(G;G)
Alt rs730880293(G;G)
Reference rs730880293(A;A)
Significance Pathogenic
Disease CODAS syndrome
Variation info
Gene LONP1
CLNDBN CODAS syndrome
Reversed 1
HGVS NC_000019.9:g.5693748T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000157620.3,