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rs587779551

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779551(G;T)
Make rs587779551(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006938
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779551
ebirs587779551
HLIrs587779551
Exacrs587779551
Varsomers587779551
Maprs587779551
PheGenIrs587779551
hapmaprs587779551
1000 genomesrs587779551
hgdprs587779551
ensemblrs587779551
gopubmedrs587779551
geneviewrs587779551
scholarrs587779551
googlers587779551
pharmgkbrs587779551
gwascentralrs587779551
openSNPrs587779551
23andMers587779551
23andMe allrs587779551
SNP Nexus

SNPshotrs587779551
SNPdbers587779551
MSV3drs587779551
GWAS Ctlgrs587779551
Max Magnitude0
ClinVar
Risk rs587779551(T;T)
Alt rs587779551(T;T)
Reference rs587779551(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.189871664G>T
CLNSRC
CLNACC RCV000087492.1,