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rs587779678

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779678(A;A)
Make rs587779678(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999489
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779678
ebirs587779678
HLIrs587779678
Exacrs587779678
Varsomers587779678
Maprs587779678
PheGenIrs587779678
hapmaprs587779678
1000 genomesrs587779678
hgdprs587779678
ensemblrs587779678
gopubmedrs587779678
geneviewrs587779678
scholarrs587779678
googlers587779678
pharmgkbrs587779678
gwascentralrs587779678
openSNPrs587779678
23andMers587779678
23andMe allrs587779678
SNP Nexus

SNPshotrs587779678
SNPdbers587779678
MSV3drs587779678
GWAS Ctlgrs587779678
Max Magnitude0
ClinVar
Risk rs587779678(A;A)
Alt rs587779678(A;A)
Reference rs587779678(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.189864215G>A
CLNSRC
CLNACC RCV000087674.1,