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rs121913551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913551(A;A)
Make rs121913551(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11974656
GenePLOD1
is asnp
is mentioned by
dbSNPrs121913551
ebirs121913551
HLIrs121913551
Exacrs121913551
Varsomers121913551
Maprs121913551
PheGenIrs121913551
hapmaprs121913551
1000 genomesrs121913551
hgdprs121913551
ensemblrs121913551
gopubmedrs121913551
geneviewrs121913551
scholarrs121913551
googlers121913551
pharmgkbrs121913551
gwascentralrs121913551
openSNPrs121913551
23andMers121913551
23andMe allrs121913551
SNP Nexus

SNPshotrs121913551
SNPdbers121913551
MSV3drs121913551
GWAS Ctlgrs121913551
Max Magnitude0
OMIM153454
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913551(A;A)
Alt rs121913551(A;A)
Reference rs121913551(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.12034713G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015442.28,