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rs587779720

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779720(A;A)
Make rs587779720(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007931
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779720
ebirs587779720
HLIrs587779720
Exacrs587779720
Varsomers587779720
Maprs587779720
PheGenIrs587779720
hapmaprs587779720
1000 genomesrs587779720
hgdprs587779720
ensemblrs587779720
gopubmedrs587779720
geneviewrs587779720
scholarrs587779720
googlers587779720
pharmgkbrs587779720
gwascentralrs587779720
openSNPrs587779720
23andMers587779720
23andMe allrs587779720
SNP Nexus

SNPshotrs587779720
SNPdbers587779720
MSV3drs587779720
GWAS Ctlgrs587779720
Max Magnitude0
ClinVar
Risk rs587779720(A;A)
Alt rs587779720(A;A)
Reference rs587779720(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.189872657G>A
CLNSRC
CLNACC RCV000087732.1,