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rs587779581

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779581(A;A)
Make rs587779581(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999516
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779581
ebirs587779581
HLIrs587779581
Exacrs587779581
Varsomers587779581
Maprs587779581
PheGenIrs587779581
hapmaprs587779581
1000 genomesrs587779581
hgdprs587779581
ensemblrs587779581
gopubmedrs587779581
geneviewrs587779581
scholarrs587779581
googlers587779581
pharmgkbrs587779581
gwascentralrs587779581
openSNPrs587779581
23andMers587779581
23andMe allrs587779581
SNP Nexus

SNPshotrs587779581
SNPdbers587779581
MSV3drs587779581
GWAS Ctlgrs587779581
Max Magnitude0
ClinVar
Risk rs587779581(A;A)
Alt rs587779581(A;A)
Reference rs587779581(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.189864242G>A
CLNSRC
CLNACC RCV000087530.2,