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rs587779437

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779437(A;A)
Make rs587779437(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999488
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779437
ebirs587779437
HLIrs587779437
Exacrs587779437
Varsomers587779437
Maprs587779437
PheGenIrs587779437
hapmaprs587779437
1000 genomesrs587779437
hgdprs587779437
ensemblrs587779437
gopubmedrs587779437
geneviewrs587779437
scholarrs587779437
googlers587779437
pharmgkbrs587779437
gwascentralrs587779437
openSNPrs587779437
23andMers587779437
23andMe allrs587779437
SNP Nexus

SNPshotrs587779437
SNPdbers587779437
MSV3drs587779437
GWAS Ctlgrs587779437
Max Magnitude0
ClinVar
Risk rs587779437(A;A)
Alt rs587779437(A;A)
Reference rs587779437(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.189864214G>A
CLNSRC
CLNACC RCV000087361.1,