Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779511

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779511(A;A)
Make rs587779511(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004321
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779511
ebirs587779511
HLIrs587779511
Exacrs587779511
Varsomers587779511
Maprs587779511
PheGenIrs587779511
hapmaprs587779511
1000 genomesrs587779511
hgdprs587779511
ensemblrs587779511
gopubmedrs587779511
geneviewrs587779511
scholarrs587779511
googlers587779511
pharmgkbrs587779511
gwascentralrs587779511
openSNPrs587779511
23andMers587779511
23andMe allrs587779511
SNP Nexus

SNPshotrs587779511
SNPdbers587779511
MSV3drs587779511
GWAS Ctlgrs587779511
Max Magnitude0
ClinVar
Risk rs587779511(A;A)
Alt rs587779511(A;A)
Reference rs587779511(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.189869047G>A
CLNSRC
CLNACC RCV000087447.1,