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rs587779557

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779557(A;A)
Make rs587779557(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989396
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779557
ebirs587779557
HLIrs587779557
Exacrs587779557
Varsomers587779557
Maprs587779557
PheGenIrs587779557
hapmaprs587779557
1000 genomesrs587779557
hgdprs587779557
ensemblrs587779557
gopubmedrs587779557
geneviewrs587779557
scholarrs587779557
googlers587779557
pharmgkbrs587779557
gwascentralrs587779557
openSNPrs587779557
23andMers587779557
23andMe allrs587779557
SNP Nexus

SNPshotrs587779557
SNPdbers587779557
MSV3drs587779557
GWAS Ctlgrs587779557
Max Magnitude0
ClinVar
Risk rs587779557(A;A)
Alt rs587779557(A;A)
Reference rs587779557(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.189854122G>A
CLNSRC
CLNACC RCV000087499.1,