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rs587779451

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779451(-;-)
Make rs587779451(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988107
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779451
ebirs587779451
HLIrs587779451
Exacrs587779451
Varsomers587779451
Maprs587779451
PheGenIrs587779451
hapmaprs587779451
1000 genomesrs587779451
hgdprs587779451
ensemblrs587779451
gopubmedrs587779451
geneviewrs587779451
scholarrs587779451
googlers587779451
pharmgkbrs587779451
gwascentralrs587779451
openSNPrs587779451
23andMers587779451
23andMe allrs587779451
SNP Nexus

SNPshotrs587779451
SNPdbers587779451
MSV3drs587779451
GWAS Ctlgrs587779451
Max Magnitude0
ClinVar
Risk rs587779451(;)
Alt rs587779451(;)
Reference rs587779451(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189852833delT
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087378.1,