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rs587779683

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779683(A;A)
Make rs587779683(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008942
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779683
ebirs587779683
HLIrs587779683
Exacrs587779683
Varsomers587779683
Maprs587779683
PheGenIrs587779683
hapmaprs587779683
1000 genomesrs587779683
hgdprs587779683
ensemblrs587779683
gopubmedrs587779683
geneviewrs587779683
scholarrs587779683
googlers587779683
pharmgkbrs587779683
gwascentralrs587779683
openSNPrs587779683
23andMers587779683
23andMe allrs587779683
SNP Nexus

SNPshotrs587779683
SNPdbers587779683
MSV3drs587779683
GWAS Ctlgrs587779683
Max Magnitude0
ClinVar
Risk rs587779683(A;A)
Alt rs587779683(A;A)
Reference rs587779683(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.189873668G>A
CLNSRC
CLNACC RCV000087679.1,