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rs587779622

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779622(A;A)
Make rs587779622(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003771
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779622
ebirs587779622
HLIrs587779622
Exacrs587779622
Varsomers587779622
Maprs587779622
PheGenIrs587779622
hapmaprs587779622
1000 genomesrs587779622
hgdprs587779622
ensemblrs587779622
gopubmedrs587779622
geneviewrs587779622
scholarrs587779622
googlers587779622
pharmgkbrs587779622
gwascentralrs587779622
openSNPrs587779622
23andMers587779622
23andMe allrs587779622
SNP Nexus

SNPshotrs587779622
SNPdbers587779622
MSV3drs587779622
GWAS Ctlgrs587779622
Max Magnitude0
ClinVar
Risk rs587779622(A;A)
Alt rs587779622(A;A)
Reference rs587779622(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.189868497G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087583.1,