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rs587779449

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779449(C;C)
Make rs587779449(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005359
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779449
ebirs587779449
HLIrs587779449
Exacrs587779449
Varsomers587779449
Maprs587779449
PheGenIrs587779449
hapmaprs587779449
1000 genomesrs587779449
hgdprs587779449
ensemblrs587779449
gopubmedrs587779449
geneviewrs587779449
scholarrs587779449
googlers587779449
pharmgkbrs587779449
gwascentralrs587779449
openSNPrs587779449
23andMers587779449
23andMe allrs587779449
SNP Nexus

SNPshotrs587779449
SNPdbers587779449
MSV3drs587779449
GWAS Ctlgrs587779449
Max Magnitude0
ClinVar
Risk rs587779449(A,C;A,C)
Alt rs587779449(A,C;A,C)
Reference rs587779449(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.189870085G>A; NC_000002.11:g.189870085G>C
CLNSRC
CLNACC RCV000087384.1, RCV000087375.1,