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rs587779445

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779445(G;T)
Make rs587779445(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007591
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779445
ebirs587779445
HLIrs587779445
Exacrs587779445
Varsomers587779445
Maprs587779445
PheGenIrs587779445
hapmaprs587779445
1000 genomesrs587779445
hgdprs587779445
ensemblrs587779445
gopubmedrs587779445
geneviewrs587779445
scholarrs587779445
googlers587779445
pharmgkbrs587779445
gwascentralrs587779445
openSNPrs587779445
23andMers587779445
23andMe allrs587779445
SNP Nexus

SNPshotrs587779445
SNPdbers587779445
MSV3drs587779445
GWAS Ctlgrs587779445
Max Magnitude0
ClinVar
Risk rs587779445(T;T)
Alt rs587779445(T;T)
Reference rs587779445(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.189872317G>T
CLNSRC
CLNACC RCV000087370.1,