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rs587779564

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779564(G;T)
Make rs587779564(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001555
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779564
ebirs587779564
HLIrs587779564
Exacrs587779564
Varsomers587779564
Maprs587779564
PheGenIrs587779564
hapmaprs587779564
1000 genomesrs587779564
hgdprs587779564
ensemblrs587779564
gopubmedrs587779564
geneviewrs587779564
scholarrs587779564
googlers587779564
pharmgkbrs587779564
gwascentralrs587779564
openSNPrs587779564
23andMers587779564
23andMe allrs587779564
SNP Nexus

SNPshotrs587779564
SNPdbers587779564
MSV3drs587779564
GWAS Ctlgrs587779564
Max Magnitude0
ClinVar
Risk rs587779564(T;T)
Alt rs587779564(T;T)
Reference rs587779564(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.189866281G>T
CLNSRC
CLNACC RCV000087512.1,