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rs587779525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAAGAGGAGAACCTGGA;CAAAGAGGAGAACCTGGA) 0 common/normal
(CCTGGACAAAGAGGAGAA;CCTGGACAAAGAGGAGAA) 0 common in clinvar
Make rs587779525(-;-)
Make rs587779525(-;CAAAGAGGAGAACCTGGA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993409
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779525
dbSNP (old)rs587779525
ClinGenrs587779525
ebirs587779525
HLIrs587779525
Exacrs587779525
Gnomadrs587779525
Varsomers587779525
Maprs587779525
PheGenIrs587779525
Biobankrs587779525
1000 genomesrs587779525
hgdprs587779525
ensemblrs587779525
gopubmedrs587779525
geneviewrs587779525
scholarrs587779525
googlers587779525
pharmgkbrs587779525
gwascentralrs587779525
openSNPrs587779525
23andMers587779525
23andMe allrs587779525
SNP Nexus

SNPshotrs587779525
SNPdbers587779525
MSV3drs587779525
GWAS Ctlgrs587779525
Max Magnitude0
ClinVar
Risk rs587779525(-;-)
Alt rs587779525(-;-)
Reference Rs587779525(CCTGGACAAAGAGGAGAA;CCTGGACAAAGAGGAGAA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189858135_189858152del18
CLNSRC
CLNACC RCV000087462.1,