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rs587779494

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779494(A;A)
Make rs587779494(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003412
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779494
ebirs587779494
HLIrs587779494
Exacrs587779494
Varsomers587779494
Maprs587779494
PheGenIrs587779494
hapmaprs587779494
1000 genomesrs587779494
hgdprs587779494
ensemblrs587779494
gopubmedrs587779494
geneviewrs587779494
scholarrs587779494
googlers587779494
pharmgkbrs587779494
gwascentralrs587779494
openSNPrs587779494
23andMers587779494
23andMe allrs587779494
SNP Nexus

SNPshotrs587779494
SNPdbers587779494
MSV3drs587779494
GWAS Ctlgrs587779494
Max Magnitude0
ClinVar
Risk rs587779494(A;A)
Alt rs587779494(A;A)
Reference rs587779494(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.189868138G>A
CLNSRC
CLNACC RCV000087427.1,