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rs121913550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913550(C;T)
Make rs121913550(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11958627
GenePLOD1
is asnp
is mentioned by
dbSNPrs121913550
ebirs121913550
HLIrs121913550
Exacrs121913550
Varsomers121913550
Maprs121913550
PheGenIrs121913550
hapmaprs121913550
1000 genomesrs121913550
hgdprs121913550
ensemblrs121913550
gopubmedrs121913550
geneviewrs121913550
scholarrs121913550
googlers121913550
pharmgkbrs121913550
gwascentralrs121913550
openSNPrs121913550
23andMers121913550
23andMe allrs121913550
SNP Nexus

SNPshotrs121913550
SNPdbers121913550
MSV3drs121913550
GWAS Ctlgrs121913550
Max Magnitude0
OMIM153454
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913550(T;T)
Alt rs121913550(T;T)
Reference rs121913550(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.12018684C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015438.26,