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rs587779706

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779706(A;A)
Make rs587779706(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999358
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779706
ebirs587779706
HLIrs587779706
Exacrs587779706
Varsomers587779706
Maprs587779706
PheGenIrs587779706
hapmaprs587779706
1000 genomesrs587779706
hgdprs587779706
ensemblrs587779706
gopubmedrs587779706
geneviewrs587779706
scholarrs587779706
googlers587779706
pharmgkbrs587779706
gwascentralrs587779706
openSNPrs587779706
23andMers587779706
23andMe allrs587779706
SNP Nexus

SNPshotrs587779706
SNPdbers587779706
MSV3drs587779706
GWAS Ctlgrs587779706
Max Magnitude0
ClinVar
Risk rs587779706(A;A)
Alt rs587779706(A;A)
Reference rs587779706(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.189864084G>A
CLNSRC
CLNACC RCV000087710.1,