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rs587779487

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779487(C;C)
Make rs587779487(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991715
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779487
ebirs587779487
HLIrs587779487
Exacrs587779487
Varsomers587779487
Maprs587779487
PheGenIrs587779487
hapmaprs587779487
1000 genomesrs587779487
hgdprs587779487
ensemblrs587779487
gopubmedrs587779487
geneviewrs587779487
scholarrs587779487
googlers587779487
pharmgkbrs587779487
gwascentralrs587779487
openSNPrs587779487
23andMers587779487
23andMe allrs587779487
SNP Nexus

SNPshotrs587779487
SNPdbers587779487
MSV3drs587779487
GWAS Ctlgrs587779487
Max Magnitude0
ClinVar
Risk rs587779487(C;C)
Alt rs587779487(C;C)
Reference rs587779487(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.189856441G>C
CLNSRC
CLNACC RCV000087420.1,