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rs587779593

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779593(A;A)
Make rs587779593(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991041
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779593
ebirs587779593
HLIrs587779593
Exacrs587779593
Varsomers587779593
Maprs587779593
PheGenIrs587779593
hapmaprs587779593
1000 genomesrs587779593
hgdprs587779593
ensemblrs587779593
gopubmedrs587779593
geneviewrs587779593
scholarrs587779593
googlers587779593
pharmgkbrs587779593
gwascentralrs587779593
openSNPrs587779593
23andMers587779593
23andMe allrs587779593
SNP Nexus

SNPshotrs587779593
SNPdbers587779593
MSV3drs587779593
GWAS Ctlgrs587779593
Max Magnitude0
ClinVar
Risk rs587779593(A;A)
Alt rs587779593(A;A)
Reference rs587779593(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.189855767G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087545.1,