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rs587779466

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779466(A;A)
Make rs587779466(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003421
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779466
ebirs587779466
HLIrs587779466
Exacrs587779466
Varsomers587779466
Maprs587779466
PheGenIrs587779466
hapmaprs587779466
1000 genomesrs587779466
hgdprs587779466
ensemblrs587779466
gopubmedrs587779466
geneviewrs587779466
scholarrs587779466
googlers587779466
pharmgkbrs587779466
gwascentralrs587779466
openSNPrs587779466
23andMers587779466
23andMe allrs587779466
SNP Nexus

SNPshotrs587779466
SNPdbers587779466
MSV3drs587779466
GWAS Ctlgrs587779466
Max Magnitude0
ClinVar
Risk rs587779466(A;A)
Alt rs587779466(A;A)
Reference rs587779466(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.189868147G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087395.1,