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rs121913552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913552(C;G)
Make rs121913552(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11965542
GenePLOD1
is asnp
is mentioned by
dbSNPrs121913552
ebirs121913552
HLIrs121913552
Exacrs121913552
Varsomers121913552
Maprs121913552
PheGenIrs121913552
hapmaprs121913552
1000 genomesrs121913552
hgdprs121913552
ensemblrs121913552
gopubmedrs121913552
geneviewrs121913552
scholarrs121913552
googlers121913552
pharmgkbrs121913552
gwascentralrs121913552
openSNPrs121913552
23andMers121913552
23andMe allrs121913552
SNP Nexus

SNPshotrs121913552
SNPdbers121913552
MSV3drs121913552
GWAS Ctlgrs121913552
Max Magnitude0
OMIM153454
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913552(G;G)
Alt rs121913552(G;G)
Reference rs121913552(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.12025599C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015447.28,