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rs587779486

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779486(G;T)
Make rs587779486(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189002991
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779486
ebirs587779486
HLIrs587779486
Exacrs587779486
Varsomers587779486
Maprs587779486
PheGenIrs587779486
hapmaprs587779486
1000 genomesrs587779486
hgdprs587779486
ensemblrs587779486
gopubmedrs587779486
geneviewrs587779486
scholarrs587779486
googlers587779486
pharmgkbrs587779486
gwascentralrs587779486
openSNPrs587779486
23andMers587779486
23andMe allrs587779486
SNP Nexus

SNPshotrs587779486
SNPdbers587779486
MSV3drs587779486
GWAS Ctlgrs587779486
Max Magnitude0
ClinVar
Risk rs587779486(T;T)
Alt rs587779486(T;T)
Reference rs587779486(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.189867717G>T
CLNSRC
CLNACC RCV000087418.1,