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rs587779531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.5 Ehlers-Danlos Syndrome (EDS) type 4
(G;G) 0 common in clinvar


Make rs587779531(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991049
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779531
dbSNP (classic)rs587779531
ClinGenrs587779531
ebirs587779531
HLIrs587779531
Exacrs587779531
Gnomadrs587779531
Varsomers587779531
LitVarrs587779531
Maprs587779531
PheGenIrs587779531
Biobankrs587779531
1000 genomesrs587779531
hgdprs587779531
ensemblrs587779531
geneviewrs587779531
scholarrs587779531
googlers587779531
pharmgkbrs587779531
gwascentralrs587779531
openSNPrs587779531
23andMers587779531
SNPshotrs587779531
SNPdbers587779531
MSV3drs587779531
GWAS Ctlgrs587779531
Max Magnitude6.5
ClinVar
Risk rs587779531(A;A)
Alt rs587779531(A;A)
Reference Rs587779531(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.189855775G>A
CLNSRC
CLNACC RCV000087471.1,