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rs587779540

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779540(A;A)
Make rs587779540(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006418
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779540
ebirs587779540
HLIrs587779540
Exacrs587779540
Varsomers587779540
Maprs587779540
PheGenIrs587779540
hapmaprs587779540
1000 genomesrs587779540
hgdprs587779540
ensemblrs587779540
gopubmedrs587779540
geneviewrs587779540
scholarrs587779540
googlers587779540
pharmgkbrs587779540
gwascentralrs587779540
openSNPrs587779540
23andMers587779540
23andMe allrs587779540
SNP Nexus

SNPshotrs587779540
SNPdbers587779540
MSV3drs587779540
GWAS Ctlgrs587779540
Max Magnitude0
ClinVar
Risk rs587779540(A;A)
Alt rs587779540(A;A)
Reference rs587779540(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.189871144G>A
CLNSRC
CLNACC RCV000087481.1,