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rs587779521

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779521(A;A)
Make rs587779521(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008134
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779521
ebirs587779521
HLIrs587779521
Exacrs587779521
Varsomers587779521
Maprs587779521
PheGenIrs587779521
hapmaprs587779521
1000 genomesrs587779521
hgdprs587779521
ensemblrs587779521
gopubmedrs587779521
geneviewrs587779521
scholarrs587779521
googlers587779521
pharmgkbrs587779521
gwascentralrs587779521
openSNPrs587779521
23andMers587779521
23andMe allrs587779521
SNP Nexus

SNPshotrs587779521
SNPdbers587779521
MSV3drs587779521
GWAS Ctlgrs587779521
Max Magnitude0
ClinVar
Risk rs587779521(A;A)
Alt rs587779521(A;A)
Reference rs587779521(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.189872860G>A
CLNSRC
CLNACC RCV000087458.1,