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rs587779439

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779439(A;A)
Make rs587779439(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007545
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779439
ebirs587779439
HLIrs587779439
Exacrs587779439
Varsomers587779439
Maprs587779439
PheGenIrs587779439
hapmaprs587779439
1000 genomesrs587779439
hgdprs587779439
ensemblrs587779439
gopubmedrs587779439
geneviewrs587779439
scholarrs587779439
googlers587779439
pharmgkbrs587779439
gwascentralrs587779439
openSNPrs587779439
23andMers587779439
23andMe allrs587779439
SNP Nexus

SNPshotrs587779439
SNPdbers587779439
MSV3drs587779439
GWAS Ctlgrs587779439
Max Magnitude0
ClinVar
Risk rs587779439(A;A)
Alt rs587779439(A;A)
Reference rs587779439(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.189872271G>A
CLNSRC
CLNACC RCV000087363.1,