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rs587779648

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779648(A;A)
Make rs587779648(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008036
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779648
ebirs587779648
HLIrs587779648
Exacrs587779648
Varsomers587779648
Maprs587779648
PheGenIrs587779648
hapmaprs587779648
1000 genomesrs587779648
hgdprs587779648
ensemblrs587779648
gopubmedrs587779648
geneviewrs587779648
scholarrs587779648
googlers587779648
pharmgkbrs587779648
gwascentralrs587779648
openSNPrs587779648
23andMers587779648
23andMe allrs587779648
SNP Nexus

SNPshotrs587779648
SNPdbers587779648
MSV3drs587779648
GWAS Ctlgrs587779648
Max Magnitude0
ClinVar
Risk rs587779648(A;A)
Alt rs587779648(A;A)
Reference rs587779648(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.189872762G>A
CLNSRC
CLNACC RCV000087623.1,