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rs587779628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587779628(-;ACCTGGGCAAGCTGG)
Make rs587779628(ACCTGGGCAAGCTGG;ACCTGGGCAAGCTGG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988636
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779628
dbSNP (old)rs587779628
ClinGenrs587779628
ebirs587779628
HLIrs587779628
Exacrs587779628
Gnomadrs587779628
Varsomers587779628
Maprs587779628
PheGenIrs587779628
Biobankrs587779628
1000 genomesrs587779628
hgdprs587779628
ensemblrs587779628
gopubmedrs587779628
geneviewrs587779628
scholarrs587779628
googlers587779628
pharmgkbrs587779628
gwascentralrs587779628
openSNPrs587779628
23andMers587779628
23andMe allrs587779628
SNP Nexus

SNPshotrs587779628
SNPdbers587779628
MSV3drs587779628
GWAS Ctlgrs587779628
Max Magnitude0
ClinVar
Risk rs587779628(ACCTGGGCAAGCTGG;ACCTGGGCAAGCTGG)
Alt rs587779628(ACCTGGGCAAGCTGG;ACCTGGGCAAGCTGG)
Reference Rs587779628(-;-)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189853348_189853362dupACCTGGGCAAGCTGG
CLNSRC
CLNACC RCV000087591.1,