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rs587779571

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779571(G;T)
Make rs587779571(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004330
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779571
ebirs587779571
HLIrs587779571
Exacrs587779571
Varsomers587779571
Maprs587779571
PheGenIrs587779571
hapmaprs587779571
1000 genomesrs587779571
hgdprs587779571
ensemblrs587779571
gopubmedrs587779571
geneviewrs587779571
scholarrs587779571
googlers587779571
pharmgkbrs587779571
gwascentralrs587779571
openSNPrs587779571
23andMers587779571
23andMe allrs587779571
SNP Nexus

SNPshotrs587779571
SNPdbers587779571
MSV3drs587779571
GWAS Ctlgrs587779571
Max Magnitude0
ClinVar
Risk rs587779571(T;T)
Alt rs587779571(T;T)
Reference rs587779571(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.189869056G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087520.1,