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rs587779450

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779450(A;A)
Make rs587779450(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004091
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779450
ebirs587779450
HLIrs587779450
Exacrs587779450
Varsomers587779450
Maprs587779450
PheGenIrs587779450
hapmaprs587779450
1000 genomesrs587779450
hgdprs587779450
ensemblrs587779450
gopubmedrs587779450
geneviewrs587779450
scholarrs587779450
googlers587779450
pharmgkbrs587779450
gwascentralrs587779450
openSNPrs587779450
23andMers587779450
23andMe allrs587779450
SNP Nexus

SNPshotrs587779450
SNPdbers587779450
MSV3drs587779450
GWAS Ctlgrs587779450
Max Magnitude0
ClinVar
Risk rs587779450(A,T;A,T)
Alt rs587779450(A,T;A,T)
Reference rs587779450(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.189868817G>A; NC_000002.11:g.189868817G>T
CLNSRC
CLNACC RCV000087376.1, RCV000087508.1,