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rs587779579

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779579(-;-)
Make rs587779579(-;GACCCTGCA)
Make rs587779579(GACCCTGCA;GACCCTGCA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993378
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779579
ebirs587779579
HLIrs587779579
Exacrs587779579
Varsomers587779579
Maprs587779579
PheGenIrs587779579
hapmaprs587779579
1000 genomesrs587779579
hgdprs587779579
ensemblrs587779579
gopubmedrs587779579
geneviewrs587779579
scholarrs587779579
googlers587779579
pharmgkbrs587779579
gwascentralrs587779579
openSNPrs587779579
23andMers587779579
23andMe allrs587779579
SNP Nexus

SNPshotrs587779579
SNPdbers587779579
MSV3drs587779579
GWAS Ctlgrs587779579
Max Magnitude0
ClinVar
Risk rs587779579(CCTGCAGAC;CCTGCAGAC)
Alt rs587779579(CCTGCAGAC;CCTGCAGAC)
Reference rs587779579(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189858104_189858105insGACCCTGCA
CLNSRC
CLNACC RCV000087528.1,