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rs587779673

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779673(A;A)
Make rs587779673(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188992888
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779673
ebirs587779673
HLIrs587779673
Exacrs587779673
Varsomers587779673
Maprs587779673
PheGenIrs587779673
hapmaprs587779673
1000 genomesrs587779673
hgdprs587779673
ensemblrs587779673
gopubmedrs587779673
geneviewrs587779673
scholarrs587779673
googlers587779673
pharmgkbrs587779673
gwascentralrs587779673
openSNPrs587779673
23andMers587779673
23andMe allrs587779673
SNP Nexus

SNPshotrs587779673
SNPdbers587779673
MSV3drs587779673
GWAS Ctlgrs587779673
Max Magnitude0
ClinVar
Risk rs587779673(A;A)
Alt rs587779673(A;A)
Reference rs587779673(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.189857614G>A
CLNSRC
CLNACC RCV000087668.1,