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rs587779658

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779658(A;T)
Make rs587779658(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189010217
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779658
ebirs587779658
HLIrs587779658
Exacrs587779658
Varsomers587779658
Maprs587779658
PheGenIrs587779658
hapmaprs587779658
1000 genomesrs587779658
hgdprs587779658
ensemblrs587779658
gopubmedrs587779658
geneviewrs587779658
scholarrs587779658
googlers587779658
pharmgkbrs587779658
gwascentralrs587779658
openSNPrs587779658
23andMers587779658
23andMe allrs587779658
SNP Nexus

SNPshotrs587779658
SNPdbers587779658
MSV3drs587779658
GWAS Ctlgrs587779658
Max Magnitude0
ClinVar
Risk rs587779658(T;T)
Alt rs587779658(T;T)
Reference rs587779658(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189874943A>T
CLNSRC
CLNACC RCV000087639.1,