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rs587779456

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779456(A;A)
Make rs587779456(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005396
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779456
ebirs587779456
HLIrs587779456
Exacrs587779456
Varsomers587779456
Maprs587779456
PheGenIrs587779456
hapmaprs587779456
1000 genomesrs587779456
hgdprs587779456
ensemblrs587779456
gopubmedrs587779456
geneviewrs587779456
scholarrs587779456
googlers587779456
pharmgkbrs587779456
gwascentralrs587779456
openSNPrs587779456
23andMers587779456
23andMe allrs587779456
SNP Nexus

SNPshotrs587779456
SNPdbers587779456
MSV3drs587779456
GWAS Ctlgrs587779456
Max Magnitude0
ClinVar
Risk rs587779456(A;A)
Alt rs587779456(A;A)
Reference rs587779456(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.189870122G>A
CLNSRC
CLNACC RCV000087385.1,