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rs587779615

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779615(G;T)
Make rs587779615(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999561
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779615
ebirs587779615
HLIrs587779615
Exacrs587779615
Varsomers587779615
Maprs587779615
PheGenIrs587779615
hapmaprs587779615
1000 genomesrs587779615
hgdprs587779615
ensemblrs587779615
gopubmedrs587779615
geneviewrs587779615
scholarrs587779615
googlers587779615
pharmgkbrs587779615
gwascentralrs587779615
openSNPrs587779615
23andMers587779615
23andMe allrs587779615
SNP Nexus

SNPshotrs587779615
SNPdbers587779615
MSV3drs587779615
GWAS Ctlgrs587779615
Max Magnitude0
ClinVar
Risk rs587779615(T;T)
Alt rs587779615(T;T)
Reference rs587779615(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.189864287G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087573.1,