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rs587779417

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779417(A;A)
Make rs587779417(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003457
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779417
ebirs587779417
HLIrs587779417
Exacrs587779417
Varsomers587779417
Maprs587779417
PheGenIrs587779417
hapmaprs587779417
1000 genomesrs587779417
hgdprs587779417
ensemblrs587779417
gopubmedrs587779417
geneviewrs587779417
scholarrs587779417
googlers587779417
pharmgkbrs587779417
gwascentralrs587779417
openSNPrs587779417
23andMers587779417
23andMe allrs587779417
SNP Nexus

SNPshotrs587779417
SNPdbers587779417
MSV3drs587779417
GWAS Ctlgrs587779417
Max Magnitude0
ClinVar
Risk rs587779417(A;A)
Alt rs587779417(A;A)
Reference rs587779417(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.189868183G>A
CLNSRC
CLNACC RCV000087339.1,