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rs587779569

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779569(A;A)
Make rs587779569(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993434
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779569
ebirs587779569
HLIrs587779569
Exacrs587779569
Varsomers587779569
Maprs587779569
PheGenIrs587779569
hapmaprs587779569
1000 genomesrs587779569
hgdprs587779569
ensemblrs587779569
gopubmedrs587779569
geneviewrs587779569
scholarrs587779569
googlers587779569
pharmgkbrs587779569
gwascentralrs587779569
openSNPrs587779569
23andMers587779569
23andMe allrs587779569
SNP Nexus

SNPshotrs587779569
SNPdbers587779569
MSV3drs587779569
GWAS Ctlgrs587779569
Max Magnitude0
ClinVar
Risk rs587779569(A;A)
Alt rs587779569(A;A)
Reference rs587779569(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.189858160G>A
CLNSRC
CLNACC RCV000087518.1,