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rs587779604

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779604(A;A)
Make rs587779604(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990353
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779604
ebirs587779604
HLIrs587779604
Exacrs587779604
Varsomers587779604
Maprs587779604
PheGenIrs587779604
hapmaprs587779604
1000 genomesrs587779604
hgdprs587779604
ensemblrs587779604
gopubmedrs587779604
geneviewrs587779604
scholarrs587779604
googlers587779604
pharmgkbrs587779604
gwascentralrs587779604
openSNPrs587779604
23andMers587779604
23andMe allrs587779604
SNP Nexus

SNPshotrs587779604
SNPdbers587779604
MSV3drs587779604
GWAS Ctlgrs587779604
Max Magnitude0
ClinVar
Risk rs587779604(A;A)
Alt rs587779604(A;A)
Reference rs587779604(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.189855079G>A
CLNSRC
CLNACC RCV000087558.1,