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rs797044446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGG;AGG) 0 common in clinvar
(GAG;GAG) 0 common in clinvar
Make rs797044446(-;-)
Make rs797044446(-;GAG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11966260
GenePLOD1
is asnp
is mentioned by
dbSNPrs797044446
dbSNP (old)rs797044446
ClinGenrs797044446
ebirs797044446
HLIrs797044446
Exacrs797044446
Gnomadrs797044446
Varsomers797044446
Maprs797044446
PheGenIrs797044446
Biobankrs797044446
1000 genomesrs797044446
hgdprs797044446
ensemblrs797044446
gopubmedrs797044446
geneviewrs797044446
scholarrs797044446
googlers797044446
pharmgkbrs797044446
gwascentralrs797044446
openSNPrs797044446
23andMers797044446
23andMe allrs797044446
SNP Nexus

SNPshotrs797044446
SNPdbers797044446
MSV3drs797044446
GWAS Ctlgrs797044446
Max Magnitude0
ClinVar
Risk rs797044446(-;-) Rs797044446(AGG;AGG)
Alt rs797044446(-;-) Rs797044446(AGG;AGG)
Reference Rs797044446(GAG;GAG)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene PLOD1
CLNDBN Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed 0
HGVS NC_000001.10:g.12026317_12026319delGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000015443.24,