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rs587779596

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779596(A;A)
Make rs587779596(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989406
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779596
ebirs587779596
HLIrs587779596
Exacrs587779596
Varsomers587779596
Maprs587779596
PheGenIrs587779596
hapmaprs587779596
1000 genomesrs587779596
hgdprs587779596
ensemblrs587779596
gopubmedrs587779596
geneviewrs587779596
scholarrs587779596
googlers587779596
pharmgkbrs587779596
gwascentralrs587779596
openSNPrs587779596
23andMers587779596
23andMe allrs587779596
SNP Nexus

SNPshotrs587779596
SNPdbers587779596
MSV3drs587779596
GWAS Ctlgrs587779596
Max Magnitude0
ClinVar
Risk rs587779596(A;A)
Alt rs587779596(A;A)
Reference rs587779596(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.189854132G>A
CLNSRC
CLNACC RCV000087548.1,