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rs587779639

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779639(A;A)
Make rs587779639(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007600
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779639
ebirs587779639
HLIrs587779639
Exacrs587779639
Varsomers587779639
Maprs587779639
PheGenIrs587779639
hapmaprs587779639
1000 genomesrs587779639
hgdprs587779639
ensemblrs587779639
gopubmedrs587779639
geneviewrs587779639
scholarrs587779639
googlers587779639
pharmgkbrs587779639
gwascentralrs587779639
openSNPrs587779639
23andMers587779639
23andMe allrs587779639
SNP Nexus

SNPshotrs587779639
SNPdbers587779639
MSV3drs587779639
GWAS Ctlgrs587779639
Max Magnitude0
ClinVar
Risk rs587779639(A;A)
Alt rs587779639(A;A)
Reference rs587779639(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.189872326G>A
CLNSRC
CLNACC RCV000087609.1,