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rs121913553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913553(C;C)
Make rs121913553(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11970750
GenePLOD1
is asnp
is mentioned by
dbSNPrs121913553
ebirs121913553
HLIrs121913553
Exacrs121913553
Varsomers121913553
Maprs121913553
PheGenIrs121913553
hapmaprs121913553
1000 genomesrs121913553
hgdprs121913553
ensemblrs121913553
gopubmedrs121913553
geneviewrs121913553
scholarrs121913553
googlers121913553
pharmgkbrs121913553
gwascentralrs121913553
openSNPrs121913553
23andMers121913553
23andMe allrs121913553
SNP Nexus

SNPshotrs121913553
SNPdbers121913553
MSV3drs121913553
GWAS Ctlgrs121913553
Max Magnitude0
OMIM153454
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913553(C;C)
Alt rs121913553(C;C)
Reference rs121913553(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene PLOD1
CLNDBN Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed 0
HGVS NC_000001.10:g.12030807G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015449.27,