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rs587779531

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779531(A;A)
Make rs587779531(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991049
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779531
ebirs587779531
HLIrs587779531
Exacrs587779531
Varsomers587779531
Maprs587779531
PheGenIrs587779531
hapmaprs587779531
1000 genomesrs587779531
hgdprs587779531
ensemblrs587779531
gopubmedrs587779531
geneviewrs587779531
scholarrs587779531
googlers587779531
pharmgkbrs587779531
gwascentralrs587779531
openSNPrs587779531
23andMers587779531
23andMe allrs587779531
SNP Nexus

SNPshotrs587779531
SNPdbers587779531
MSV3drs587779531
GWAS Ctlgrs587779531
Max Magnitude0
ClinVar
Risk rs587779531(A;A)
Alt rs587779531(A;A)
Reference rs587779531(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.189855775G>A
CLNSRC
CLNACC RCV000087471.1,