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rs587779538

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779538(A;A)
Make rs587779538(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993464
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779538
ebirs587779538
HLIrs587779538
Exacrs587779538
Varsomers587779538
Maprs587779538
PheGenIrs587779538
hapmaprs587779538
1000 genomesrs587779538
hgdprs587779538
ensemblrs587779538
gopubmedrs587779538
geneviewrs587779538
scholarrs587779538
googlers587779538
pharmgkbrs587779538
gwascentralrs587779538
openSNPrs587779538
23andMers587779538
23andMe allrs587779538
SNP Nexus

SNPshotrs587779538
SNPdbers587779538
MSV3drs587779538
GWAS Ctlgrs587779538
Max Magnitude0
ClinVar
Risk rs587779538(A;A)
Alt rs587779538(A;A)
Reference rs587779538(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.189858190G>A
CLNSRC
CLNACC RCV000087478.1,