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rs587779620

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779620(A;A)
Make rs587779620(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998303
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779620
ebirs587779620
HLIrs587779620
Exacrs587779620
Varsomers587779620
Maprs587779620
PheGenIrs587779620
hapmaprs587779620
1000 genomesrs587779620
hgdprs587779620
ensemblrs587779620
gopubmedrs587779620
geneviewrs587779620
scholarrs587779620
googlers587779620
pharmgkbrs587779620
gwascentralrs587779620
openSNPrs587779620
23andMers587779620
23andMe allrs587779620
SNP Nexus

SNPshotrs587779620
SNPdbers587779620
MSV3drs587779620
GWAS Ctlgrs587779620
Max Magnitude0
ClinVar
Risk rs587779620(A;A)
Alt rs587779620(A;A)
Reference rs587779620(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.189863029G>A
CLNSRC
CLNACC RCV000087580.1,