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rs587779590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAGTAATGTAAGTA;TAGTAATGTAAGTA) 0 common in clinvar
Make rs587779590(GACCTGAGAC;GACCTGAGAC)
Make rs587779590(GACCTGAGAC;TAGTAATGTAAGTA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003781
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779590
dbSNP (old)rs587779590
ClinGenrs587779590
ebirs587779590
HLIrs587779590
Exacrs587779590
Gnomadrs587779590
Varsomers587779590
Maprs587779590
PheGenIrs587779590
Biobankrs587779590
1000 genomesrs587779590
hgdprs587779590
ensemblrs587779590
gopubmedrs587779590
geneviewrs587779590
scholarrs587779590
googlers587779590
pharmgkbrs587779590
gwascentralrs587779590
openSNPrs587779590
23andMers587779590
23andMe allrs587779590
SNP Nexus

SNPshotrs587779590
SNPdbers587779590
MSV3drs587779590
GWAS Ctlgrs587779590
Max Magnitude0
ClinVar
Risk rs587779590(GACCTGAGAC;GACCTGAGAC)
Alt rs587779590(GACCTGAGAC;GACCTGAGAC)
Reference Rs587779590(TAGTAATGTAAGTA;TAGTAATGTAAGTA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189868507_189868520delTAGTAATGTAAGTAinsGACCTGAGAC
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087542.1,