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rs587779529

From SNPedia

Orientationplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs587779529(-;-)
Make rs587779529(-;CTT)
Make rs587779529(CTT;CTT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006227
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779529
ebirs587779529
HLIrs587779529
Exacrs587779529
Varsomers587779529
Maprs587779529
PheGenIrs587779529
hapmaprs587779529
1000 genomesrs587779529
hgdprs587779529
ensemblrs587779529
gopubmedrs587779529
geneviewrs587779529
scholarrs587779529
googlers587779529
pharmgkbrs587779529
gwascentralrs587779529
openSNPrs587779529
23andMers587779529
23andMe allrs587779529
SNP Nexus

SNPshotrs587779529
SNPdbers587779529
MSV3drs587779529
GWAS Ctlgrs587779529
Max Magnitude0
ClinVar
Risk rs587779529(;)
Alt rs587779529(;)
Reference rs587779529(TCT;TCT)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189870953_189870955delCTT
CLNSRC
CLNACC RCV000087468.1,