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rs587779718

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779718(A;A)
Make rs587779718(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991004
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779718
ebirs587779718
HLIrs587779718
Exacrs587779718
Varsomers587779718
Maprs587779718
PheGenIrs587779718
hapmaprs587779718
1000 genomesrs587779718
hgdprs587779718
ensemblrs587779718
gopubmedrs587779718
geneviewrs587779718
scholarrs587779718
googlers587779718
pharmgkbrs587779718
gwascentralrs587779718
openSNPrs587779718
23andMers587779718
23andMe allrs587779718
SNP Nexus

SNPshotrs587779718
SNPdbers587779718
MSV3drs587779718
GWAS Ctlgrs587779718
Max Magnitude0
ClinVar
Risk rs587779718(A;A)
Alt rs587779718(A;A)
Reference rs587779718(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.189855730G>A
CLNSRC
CLNACC RCV000087728.1,