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rs587779461

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779461(A;A)
Make rs587779461(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001450
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779461
ebirs587779461
HLIrs587779461
Exacrs587779461
Varsomers587779461
Maprs587779461
PheGenIrs587779461
hapmaprs587779461
1000 genomesrs587779461
hgdprs587779461
ensemblrs587779461
gopubmedrs587779461
geneviewrs587779461
scholarrs587779461
googlers587779461
pharmgkbrs587779461
gwascentralrs587779461
openSNPrs587779461
23andMers587779461
23andMe allrs587779461
SNP Nexus

SNPshotrs587779461
SNPdbers587779461
MSV3drs587779461
GWAS Ctlgrs587779461
Max Magnitude0
ClinVar
Risk rs587779461(A;A)
Alt rs587779461(A;A)
Reference rs587779461(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.189866176G>A
CLNSRC
CLNACC RCV000087390.1,