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rs587779438

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779438(A;A)
Make rs587779438(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004257
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779438
ebirs587779438
HLIrs587779438
Exacrs587779438
Varsomers587779438
Maprs587779438
PheGenIrs587779438
hapmaprs587779438
1000 genomesrs587779438
hgdprs587779438
ensemblrs587779438
gopubmedrs587779438
geneviewrs587779438
scholarrs587779438
googlers587779438
pharmgkbrs587779438
gwascentralrs587779438
openSNPrs587779438
23andMers587779438
23andMe allrs587779438
SNP Nexus

SNPshotrs587779438
SNPdbers587779438
MSV3drs587779438
GWAS Ctlgrs587779438
Max Magnitude0
ClinVar
Risk rs587779438(A;A)
Alt rs587779438(A;A)
Reference rs587779438(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.189868983G>A
CLNSRC
CLNACC RCV000087362.1,