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rs587779698

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779698(A;A)
Make rs587779698(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999525
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779698
ebirs587779698
HLIrs587779698
Exacrs587779698
Varsomers587779698
Maprs587779698
PheGenIrs587779698
hapmaprs587779698
1000 genomesrs587779698
hgdprs587779698
ensemblrs587779698
gopubmedrs587779698
geneviewrs587779698
scholarrs587779698
googlers587779698
pharmgkbrs587779698
gwascentralrs587779698
openSNPrs587779698
23andMers587779698
23andMe allrs587779698
SNP Nexus

SNPshotrs587779698
SNPdbers587779698
MSV3drs587779698
GWAS Ctlgrs587779698
Max Magnitude0
ClinVar
Risk rs587779698(A;A)
Alt rs587779698(A;A)
Reference rs587779698(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.189864251G>A
CLNSRC
CLNACC RCV000087696.1,