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rs797044447

From SNPedia

Orientationplus
Make rs797044447(-;-)
Make rs797044447(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11966985
GenePLOD1
is asnp
is mentioned by
dbSNPrs797044447
ebirs797044447
HLIrs797044447
Exacrs797044447
Varsomers797044447
Maprs797044447
PheGenIrs797044447
hapmaprs797044447
1000 genomesrs797044447
hgdprs797044447
ensemblrs797044447
gopubmedrs797044447
geneviewrs797044447
scholarrs797044447
googlers797044447
pharmgkbrs797044447
gwascentralrs797044447
openSNPrs797044447
23andMers797044447
23andMe allrs797044447
SNP Nexus

SNPshotrs797044447
SNPdbers797044447
MSV3drs797044447
GWAS Ctlgrs797044447
Max Magnitude
ClinVar
Risk rs797044447(;)
Alt rs797044447(;)
Reference rs797044447(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene PLOD1
CLNDBN Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed 0
HGVS NC_000001.10:g.12027042delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015444.27,