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rs587779424

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779424(A;A)
Make rs587779424(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004144
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779424
ebirs587779424
HLIrs587779424
Exacrs587779424
Varsomers587779424
Maprs587779424
PheGenIrs587779424
hapmaprs587779424
1000 genomesrs587779424
hgdprs587779424
ensemblrs587779424
gopubmedrs587779424
geneviewrs587779424
scholarrs587779424
googlers587779424
pharmgkbrs587779424
gwascentralrs587779424
openSNPrs587779424
23andMers587779424
23andMe allrs587779424
SNP Nexus

SNPshotrs587779424
SNPdbers587779424
MSV3drs587779424
GWAS Ctlgrs587779424
Max Magnitude0
ClinVar
Risk rs587779424(A;A)
Alt rs587779424(A;A)
Reference rs587779424(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.189868870G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087347.1,