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rs587779656

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779656(A;A)
Make rs587779656(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990106
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779656
ebirs587779656
HLIrs587779656
Exacrs587779656
Varsomers587779656
Maprs587779656
PheGenIrs587779656
hapmaprs587779656
1000 genomesrs587779656
hgdprs587779656
ensemblrs587779656
gopubmedrs587779656
geneviewrs587779656
scholarrs587779656
googlers587779656
pharmgkbrs587779656
gwascentralrs587779656
openSNPrs587779656
23andMers587779656
23andMe allrs587779656
SNP Nexus

SNPshotrs587779656
SNPdbers587779656
MSV3drs587779656
GWAS Ctlgrs587779656
Max Magnitude0
ClinVar
Risk rs587779656(A;A)
Alt rs587779656(A;A)
Reference rs587779656(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.189854832G>A
CLNSRC
CLNACC RCV000087637.1,