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rs587779495

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779495(A;A)
Make rs587779495(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008054
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779495
ebirs587779495
HLIrs587779495
Exacrs587779495
Varsomers587779495
Maprs587779495
PheGenIrs587779495
hapmaprs587779495
1000 genomesrs587779495
hgdprs587779495
ensemblrs587779495
gopubmedrs587779495
geneviewrs587779495
scholarrs587779495
googlers587779495
pharmgkbrs587779495
gwascentralrs587779495
openSNPrs587779495
23andMers587779495
23andMe allrs587779495
SNP Nexus

SNPshotrs587779495
SNPdbers587779495
MSV3drs587779495
GWAS Ctlgrs587779495
Max Magnitude0
ClinVar
Risk rs587779495(A;A)
Alt rs587779495(A;A)
Reference rs587779495(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.189872780G>A
CLNSRC
CLNACC RCV000087429.1,