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rs587779484

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779484(A;A)
Make rs587779484(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999551
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779484
ebirs587779484
HLIrs587779484
Exacrs587779484
Varsomers587779484
Maprs587779484
PheGenIrs587779484
hapmaprs587779484
1000 genomesrs587779484
hgdprs587779484
ensemblrs587779484
gopubmedrs587779484
geneviewrs587779484
scholarrs587779484
googlers587779484
pharmgkbrs587779484
gwascentralrs587779484
openSNPrs587779484
23andMers587779484
23andMe allrs587779484
SNP Nexus

SNPshotrs587779484
SNPdbers587779484
MSV3drs587779484
GWAS Ctlgrs587779484
Max Magnitude0
ClinVar
Risk rs587779484(A;A)
Alt rs587779484(A;A)
Reference rs587779484(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.189864277G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087416.1,