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

rs587779558

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779558(A;G)
Make rs587779558(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001395
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779558
ebirs587779558
HLIrs587779558
Exacrs587779558
Varsomers587779558
Maprs587779558
PheGenIrs587779558
hapmaprs587779558
1000 genomesrs587779558
hgdprs587779558
ensemblrs587779558
gopubmedrs587779558
geneviewrs587779558
scholarrs587779558
googlers587779558
pharmgkbrs587779558
gwascentralrs587779558
openSNPrs587779558
23andMers587779558
23andMe allrs587779558
SNP Nexus

SNPshotrs587779558
SNPdbers587779558
MSV3drs587779558
GWAS Ctlgrs587779558
Max Magnitude0
ClinVar
Risk rs587779558(G;G)
Alt rs587779558(G;G)
Reference rs587779558(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189866121A>G
CLNSRC
CLNACC RCV000087500.1,