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rs587779589

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779589(C;C)
Make rs587779589(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004001
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779589
ebirs587779589
HLIrs587779589
Exacrs587779589
Varsomers587779589
Maprs587779589
PheGenIrs587779589
hapmaprs587779589
1000 genomesrs587779589
hgdprs587779589
ensemblrs587779589
gopubmedrs587779589
geneviewrs587779589
scholarrs587779589
googlers587779589
pharmgkbrs587779589
gwascentralrs587779589
openSNPrs587779589
23andMers587779589
23andMe allrs587779589
SNP Nexus

SNPshotrs587779589
SNPdbers587779589
MSV3drs587779589
GWAS Ctlgrs587779589
Max Magnitude0
ClinVar
Risk rs587779589(C;C)
Alt rs587779589(C;C)
Reference rs587779589(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.189868727G>C
CLNSRC
CLNACC RCV000087541.1,