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rs587779676

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779676(A;A)
Make rs587779676(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988644
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779676
ebirs587779676
HLIrs587779676
Exacrs587779676
Varsomers587779676
Maprs587779676
PheGenIrs587779676
hapmaprs587779676
1000 genomesrs587779676
hgdprs587779676
ensemblrs587779676
gopubmedrs587779676
geneviewrs587779676
scholarrs587779676
googlers587779676
pharmgkbrs587779676
gwascentralrs587779676
openSNPrs587779676
23andMers587779676
23andMe allrs587779676
SNP Nexus

SNPshotrs587779676
SNPdbers587779676
MSV3drs587779676
GWAS Ctlgrs587779676
Max Magnitude0
ClinVar
Risk rs587779676(A;A)
Alt rs587779676(A;A)
Reference rs587779676(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189853370G>A
CLNSRC
CLNACC RCV000087671.1,