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rs587779686

From SNPedia

Orientationplus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs587779686(-;-)
Make rs587779686(-;GGA)
Make rs587779686(GGA;GGA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993415
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779686
ebirs587779686
HLIrs587779686
Exacrs587779686
Varsomers587779686
Maprs587779686
PheGenIrs587779686
hapmaprs587779686
1000 genomesrs587779686
hgdprs587779686
ensemblrs587779686
gopubmedrs587779686
geneviewrs587779686
scholarrs587779686
googlers587779686
pharmgkbrs587779686
gwascentralrs587779686
openSNPrs587779686
23andMers587779686
23andMe allrs587779686
SNP Nexus

SNPshotrs587779686
SNPdbers587779686
MSV3drs587779686
GWAS Ctlgrs587779686
Max Magnitude0
ClinVar
Risk rs587779686(;)
Alt rs587779686(;)
Reference rs587779686(GAG;GAG)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189858141_189858143delGGA
CLNSRC
CLNACC RCV000087683.1,