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rs587779499

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779499(A;A)
Make rs587779499(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993397
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779499
ebirs587779499
HLIrs587779499
Exacrs587779499
Varsomers587779499
Maprs587779499
PheGenIrs587779499
hapmaprs587779499
1000 genomesrs587779499
hgdprs587779499
ensemblrs587779499
gopubmedrs587779499
geneviewrs587779499
scholarrs587779499
googlers587779499
pharmgkbrs587779499
gwascentralrs587779499
openSNPrs587779499
23andMers587779499
23andMe allrs587779499
SNP Nexus

SNPshotrs587779499
SNPdbers587779499
MSV3drs587779499
GWAS Ctlgrs587779499
Max Magnitude0
ClinVar
Risk rs587779499(A;A)
Alt rs587779499(A;A)
Reference rs587779499(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.189858123G>A
CLNSRC
CLNACC RCV000087433.1,