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rs587779715

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779715(C;C)
Make rs587779715(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008089
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779715
ebirs587779715
HLIrs587779715
Exacrs587779715
Varsomers587779715
Maprs587779715
PheGenIrs587779715
hapmaprs587779715
1000 genomesrs587779715
hgdprs587779715
ensemblrs587779715
gopubmedrs587779715
geneviewrs587779715
scholarrs587779715
googlers587779715
pharmgkbrs587779715
gwascentralrs587779715
openSNPrs587779715
23andMers587779715
23andMe allrs587779715
SNP Nexus

SNPshotrs587779715
SNPdbers587779715
MSV3drs587779715
GWAS Ctlgrs587779715
Max Magnitude0
ClinVar
Risk rs587779715(C;C)
Alt rs587779715(C;C)
Reference rs587779715(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.189872815G>C
CLNSRC
CLNACC RCV000087723.1,