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rs557317492

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs557317492(C;T)
Make rs557317492(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11974699
GenePLOD1
is asnp
is mentioned by
dbSNPrs557317492
ebirs557317492
HLIrs557317492
Exacrs557317492
Varsomers557317492
Maprs557317492
PheGenIrs557317492
hapmaprs557317492
1000 genomesrs557317492
hgdprs557317492
ensemblrs557317492
gopubmedrs557317492
geneviewrs557317492
scholarrs557317492
googlers557317492
pharmgkbrs557317492
gwascentralrs557317492
openSNPrs557317492
23andMers557317492
23andMe allrs557317492
SNP Nexus

SNPshotrs557317492
SNPdbers557317492
MSV3drs557317492
GWAS Ctlgrs557317492
Max Magnitude0
ClinVar
Risk rs557317492(T;T)
Alt rs557317492(T;T)
Reference rs557317492(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.12034756C>T
CLNSRC
CLNACC RCV000202446.1,