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rs587779619

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779619(G;T)
Make rs587779619(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006427
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779619
ebirs587779619
HLIrs587779619
Exacrs587779619
Varsomers587779619
Maprs587779619
PheGenIrs587779619
hapmaprs587779619
1000 genomesrs587779619
hgdprs587779619
ensemblrs587779619
gopubmedrs587779619
geneviewrs587779619
scholarrs587779619
googlers587779619
pharmgkbrs587779619
gwascentralrs587779619
openSNPrs587779619
23andMers587779619
23andMe allrs587779619
SNP Nexus

SNPshotrs587779619
SNPdbers587779619
MSV3drs587779619
GWAS Ctlgrs587779619
Max Magnitude0
ClinVar
Risk rs587779619(T;T)
Alt rs587779619(T;T)
Reference rs587779619(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.189871153G>T
CLNSRC
CLNACC RCV000087579.1,