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rs587779713

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779713(A;T)
Make rs587779713(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003065
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779713
ebirs587779713
HLIrs587779713
Exacrs587779713
Varsomers587779713
Maprs587779713
PheGenIrs587779713
hapmaprs587779713
1000 genomesrs587779713
hgdprs587779713
ensemblrs587779713
gopubmedrs587779713
geneviewrs587779713
scholarrs587779713
googlers587779713
pharmgkbrs587779713
gwascentralrs587779713
openSNPrs587779713
23andMers587779713
23andMe allrs587779713
SNP Nexus

SNPshotrs587779713
SNPdbers587779713
MSV3drs587779713
GWAS Ctlgrs587779713
Max Magnitude0
ClinVar
Risk rs587779713(G,T;G,T)
Alt rs587779713(G,T;G,T)
Reference rs587779713(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189867791A>T
CLNSRC
CLNACC RCV000087721.1,