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rs587779469

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779469(A;A)
Make rs587779469(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006974
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779469
ebirs587779469
HLIrs587779469
Exacrs587779469
Varsomers587779469
Maprs587779469
PheGenIrs587779469
hapmaprs587779469
1000 genomesrs587779469
hgdprs587779469
ensemblrs587779469
gopubmedrs587779469
geneviewrs587779469
scholarrs587779469
googlers587779469
pharmgkbrs587779469
gwascentralrs587779469
openSNPrs587779469
23andMers587779469
23andMe allrs587779469
SNP Nexus

SNPshotrs587779469
SNPdbers587779469
MSV3drs587779469
GWAS Ctlgrs587779469
Max Magnitude0
ClinVar
Risk rs587779469(A;A)
Alt rs587779469(A;A)
Reference rs587779469(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.189871700G>A
CLNSRC
CLNACC RCV000087399.1,