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rs587779545

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779545(A;A)
Make rs587779545(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006391
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779545
ebirs587779545
HLIrs587779545
Exacrs587779545
Varsomers587779545
Maprs587779545
PheGenIrs587779545
hapmaprs587779545
1000 genomesrs587779545
hgdprs587779545
ensemblrs587779545
gopubmedrs587779545
geneviewrs587779545
scholarrs587779545
googlers587779545
pharmgkbrs587779545
gwascentralrs587779545
openSNPrs587779545
23andMers587779545
23andMe allrs587779545
SNP Nexus

SNPshotrs587779545
SNPdbers587779545
MSV3drs587779545
GWAS Ctlgrs587779545
Max Magnitude0
ClinVar
Risk rs587779545(A;A)
Alt rs587779545(A;A)
Reference rs587779545(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189871117G>A
CLNSRC
CLNACC RCV000087486.1,