Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779669

From SNPedia

Orientationplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs587779669(AA;AA)
Make rs587779669(AA;GC)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008925
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779669
ebirs587779669
HLIrs587779669
Exacrs587779669
Varsomers587779669
Maprs587779669
PheGenIrs587779669
hapmaprs587779669
1000 genomesrs587779669
hgdprs587779669
ensemblrs587779669
gopubmedrs587779669
geneviewrs587779669
scholarrs587779669
googlers587779669
pharmgkbrs587779669
gwascentralrs587779669
openSNPrs587779669
23andMers587779669
23andMe allrs587779669
SNP Nexus

SNPshotrs587779669
SNPdbers587779669
MSV3drs587779669
GWAS Ctlgrs587779669
Max Magnitude0
ClinVar
Risk rs587779669(AA;AA)
Alt rs587779669(AA;AA)
Reference rs587779669(GC;GC)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189873651_189873652delGCinsAA
CLNSRC
CLNACC RCV000087659.1,