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rs587779681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTTCAGTAAGT;CCTTCAGTAAGT) 0 common in clinvar
Make rs587779681(CCTTCAGTAAGT;TACTAAATATA)
Make rs587779681(TACTAAATATA;TACTAAATATA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988638
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779681
dbSNP (old)rs587779681
ClinGenrs587779681
ebirs587779681
HLIrs587779681
Exacrs587779681
Gnomadrs587779681
Varsomers587779681
Maprs587779681
PheGenIrs587779681
Biobankrs587779681
1000 genomesrs587779681
hgdprs587779681
ensemblrs587779681
gopubmedrs587779681
geneviewrs587779681
scholarrs587779681
googlers587779681
pharmgkbrs587779681
gwascentralrs587779681
openSNPrs587779681
23andMers587779681
23andMe allrs587779681
SNP Nexus

SNPshotrs587779681
SNPdbers587779681
MSV3drs587779681
GWAS Ctlgrs587779681
Max Magnitude0
ClinVar
Risk rs587779681(TACTAAATATA;TACTAAATATA)
Alt rs587779681(TACTAAATATA;TACTAAATATA)
Reference Rs587779681(CCTTCAGTAAGT;CCTTCAGTAAGT)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189853364_189853375delCCTTCAGTAAGTinsTACTAAATATA
CLNSRC
CLNACC RCV000087677.1,