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rs587779453

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779453(A;C)
Make rs587779453(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994597
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779453
ebirs587779453
HLIrs587779453
Exacrs587779453
Varsomers587779453
Maprs587779453
PheGenIrs587779453
hapmaprs587779453
1000 genomesrs587779453
hgdprs587779453
ensemblrs587779453
gopubmedrs587779453
geneviewrs587779453
scholarrs587779453
googlers587779453
pharmgkbrs587779453
gwascentralrs587779453
openSNPrs587779453
23andMers587779453
23andMe allrs587779453
SNP Nexus

SNPshotrs587779453
SNPdbers587779453
MSV3drs587779453
GWAS Ctlgrs587779453
Max Magnitude0
ClinVar
Risk rs587779453(C;C)
Alt rs587779453(C;C)
Reference rs587779453(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189859323A>C
CLNSRC
CLNACC RCV000087381.1,