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rs587779478

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779478(A;A)
Make rs587779478(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991014
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779478
ebirs587779478
HLIrs587779478
Exacrs587779478
Varsomers587779478
Maprs587779478
PheGenIrs587779478
hapmaprs587779478
1000 genomesrs587779478
hgdprs587779478
ensemblrs587779478
gopubmedrs587779478
geneviewrs587779478
scholarrs587779478
googlers587779478
pharmgkbrs587779478
gwascentralrs587779478
openSNPrs587779478
23andMers587779478
23andMe allrs587779478
SNP Nexus

SNPshotrs587779478
SNPdbers587779478
MSV3drs587779478
GWAS Ctlgrs587779478
Max Magnitude0
ClinVar
Risk rs587779478(A;A)
Alt rs587779478(A;A)
Reference rs587779478(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.189855740G>A
CLNSRC
CLNACC RCV000087410.1,