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rs587779640

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779640(G;T)
Make rs587779640(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004320
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779640
ebirs587779640
HLIrs587779640
Exacrs587779640
Varsomers587779640
Maprs587779640
PheGenIrs587779640
hapmaprs587779640
1000 genomesrs587779640
hgdprs587779640
ensemblrs587779640
gopubmedrs587779640
geneviewrs587779640
scholarrs587779640
googlers587779640
pharmgkbrs587779640
gwascentralrs587779640
openSNPrs587779640
23andMers587779640
23andMe allrs587779640
SNP Nexus

SNPshotrs587779640
SNPdbers587779640
MSV3drs587779640
GWAS Ctlgrs587779640
Max Magnitude0
ClinVar
Risk rs587779640(C,T;C,T)
Alt rs587779640(C,T;C,T)
Reference rs587779640(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.189869046G>C; NC_000002.11:g.189869046G>T
CLNSRC
CLNACC RCV000087649.1, RCV000087610.1,