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rs587779660

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779660(A;A)
Make rs587779660(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989450
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779660
ebirs587779660
HLIrs587779660
Exacrs587779660
Varsomers587779660
Maprs587779660
PheGenIrs587779660
hapmaprs587779660
1000 genomesrs587779660
hgdprs587779660
ensemblrs587779660
gopubmedrs587779660
geneviewrs587779660
scholarrs587779660
googlers587779660
pharmgkbrs587779660
gwascentralrs587779660
openSNPrs587779660
23andMers587779660
23andMe allrs587779660
SNP Nexus

SNPshotrs587779660
SNPdbers587779660
MSV3drs587779660
GWAS Ctlgrs587779660
Max Magnitude0
ClinVar
Risk rs587779660(A;A)
Alt rs587779660(A;A)
Reference rs587779660(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.189854176G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087642.1,