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rs587779480

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779480(A;A)
Make rs587779480(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006991
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779480
ebirs587779480
HLIrs587779480
Exacrs587779480
Varsomers587779480
Maprs587779480
PheGenIrs587779480
hapmaprs587779480
1000 genomesrs587779480
hgdprs587779480
ensemblrs587779480
gopubmedrs587779480
geneviewrs587779480
scholarrs587779480
googlers587779480
pharmgkbrs587779480
gwascentralrs587779480
openSNPrs587779480
23andMers587779480
23andMe allrs587779480
SNP Nexus

SNPshotrs587779480
SNPdbers587779480
MSV3drs587779480
GWAS Ctlgrs587779480
Max Magnitude0
ClinVar
Risk rs587779480(A;A)
Alt rs587779480(A;A)
Reference rs587779480(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.189871717G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087412.1,