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rs797044448

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044448(A;A)
Make rs797044448(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11952736
GenePLOD1
is asnp
is mentioned by
dbSNPrs797044448
ebirs797044448
HLIrs797044448
Exacrs797044448
Varsomers797044448
Maprs797044448
PheGenIrs797044448
hapmaprs797044448
1000 genomesrs797044448
hgdprs797044448
ensemblrs797044448
gopubmedrs797044448
geneviewrs797044448
scholarrs797044448
googlers797044448
pharmgkbrs797044448
gwascentralrs797044448
openSNPrs797044448
23andMers797044448
23andMe allrs797044448
SNP Nexus

SNPshotrs797044448
SNPdbers797044448
MSV3drs797044448
GWAS Ctlgrs797044448
Max Magnitude0
ClinVar
Risk rs797044448(A;A)
Alt rs797044448(A;A)
Reference Rs797044448(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.12012793G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015448.27,