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rs121913554

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Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913554(C;T)
Make rs121913554(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11972977
GenePLOD1
is asnp
is mentioned by
dbSNPrs121913554
ebirs121913554
HLIrs121913554
Exacrs121913554
Varsomers121913554
Maprs121913554
PheGenIrs121913554
hapmaprs121913554
1000 genomesrs121913554
hgdprs121913554
ensemblrs121913554
gopubmedrs121913554
geneviewrs121913554
scholarrs121913554
googlers121913554
pharmgkbrs121913554
gwascentralrs121913554
openSNPrs121913554
23andMers121913554
23andMe allrs121913554
SNP Nexus

SNPshotrs121913554
SNPdbers121913554
MSV3drs121913554
GWAS Ctlgrs121913554
GMAF0.0004591
Max Magnitude0
OMIM153454
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913554(T;T)
Alt rs121913554(T;T)
Reference rs121913554(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene PLOD1
CLNDBN Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed 0
HGVS NC_000001.10:g.12033034C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015440.23,