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rs587779452

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779452(G;T)
Make rs587779452(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991725
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779452
ebirs587779452
HLIrs587779452
Exacrs587779452
Varsomers587779452
Maprs587779452
PheGenIrs587779452
hapmaprs587779452
1000 genomesrs587779452
hgdprs587779452
ensemblrs587779452
gopubmedrs587779452
geneviewrs587779452
scholarrs587779452
googlers587779452
pharmgkbrs587779452
gwascentralrs587779452
openSNPrs587779452
23andMers587779452
23andMe allrs587779452
SNP Nexus

SNPshotrs587779452
SNPdbers587779452
MSV3drs587779452
GWAS Ctlgrs587779452
Max Magnitude0
ClinVar
Risk rs587779452(T;T)
Alt rs587779452(T;T)
Reference rs587779452(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.189856451G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087379.1,