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rs138698098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138698098(C;T)
Make rs138698098(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11948035
GenePLOD1
is asnp
is mentioned by
dbSNPrs138698098
dbSNP (classic)rs138698098
ClinGenrs138698098
ebirs138698098
HLIrs138698098
Exacrs138698098
Gnomadrs138698098
Varsomers138698098
LitVarrs138698098
Maprs138698098
PheGenIrs138698098
Biobankrs138698098
1000 genomesrs138698098
hgdprs138698098
ensemblrs138698098
geneviewrs138698098
scholarrs138698098
googlers138698098
pharmgkbrs138698098
gwascentralrs138698098
openSNPrs138698098
23andMers138698098
SNPshotrs138698098
SNPdbers138698098
MSV3drs138698098
GWAS Ctlgrs138698098
Max Magnitude0
ClinVar
Risk rs138698098(T;T)
Alt rs138698098(T;T)
Reference Rs138698098(C;C)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene PLOD1
CLNDBN Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed 0
HGVS NC_000001.10:g.12008092C>T
CLNSRC
CLNACC RCV000202446.1,